SNP Links for Protein (Select 300069017) - SNP

Links from Protein

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Select item 14880781591.

rs1488078159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:135394176 (GRCh38)
7:135078928 (GRCh37)
Canonical SPDI:: NC_000007.14:135394175:C:A,NC_000007.14:135394175:C:T
Gene:: CNOT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.135394176C>A, NC_000007.14:g.135394176C>T, NC_000007.13:g.135078928C>A, NC_000007.13:g.135078928C>T, NM_013316.4:c.1360G>T, NM_013316.4:c.1360G>A, NM_013316.3:c.1360G>T, NM_013316.3:c.1360G>A, NM_001008225.3:c.1360G>T, NM_001008225.3:c.1360G>A, NM_001008225.2:c.1360G>T, NM_001008225.2:c.1360G>A, NM_001190848.2:c.1369G>T, NM_001190848.2:c.1369G>A, NM_001190848.1:c.1369G>T, NM_001190848.1:c.1369G>A, NM_001190850.2:c.1369G>T, NM_001190850.2:c.1369G>A, NM_001190850.1:c.1369G>T, NM_001190850.1:c.1369G>A, NM_001190849.2:c.1360G>T, NM_001190849.2:c.1360G>A, NM_001190849.1:c.1360G>T, NM_001190849.1:c.1360G>A, NM_001190847.2:c.1369G>T, NM_001190847.2:c.1369G>A, NM_001190847.1:c.1369G>T, NM_001190847.1:c.1369G>A, XM_047420414.1:c.1369G>T, XM_047420414.1:c.1369G>A, NM_001393370.1:c.1369G>T, NM_001393370.1:c.1369G>A, XM_047420415.1:c.1360G>T, XM_047420415.1:c.1360G>A, NM_001393371.1:c.1294G>T, NM_001393371.1:c.1294G>A, NM_001393372.1:c.1258G>T, NM_001393372.1:c.1258G>A, NM_001393374.1:c.1360G>T, NM_001393374.1:c.1360G>A, XM_047420412.1:c.1360G>T, XM_047420412.1:c.1360G>A, NM_001393373.1:c.1171G>T, NM_001393373.1:c.1171G>A, NM_001393375.1:c.1258G>T, NM_001393375.1:c.1258G>A, XM_047420413.1:c.1369G>T, XM_047420413.1:c.1369G>A, NP_037448.2:p.Ala454Ser, NP_037448.2:p.Ala454Thr, NP_001008226.1:p.Ala454Ser, NP_001008226.1:p.Ala454Thr, NP_001177777.1:p.Ala457Ser, NP_001177777.1:p.Ala457Thr, NP_001177779.1:p.Ala457Ser, NP_001177779.1:p.Ala457Thr, NP_001177778.1:p.Ala454Ser, NP_001177778.1:p.Ala454Thr, NP_001177776.1:p.Ala457Ser, NP_001177776.1:p.Ala457Thr, XP_047276370.1:p.Ala457Ser, XP_047276370.1:p.Ala457Thr, NP_001380299.1:p.Ala457Ser, NP_001380299.1:p.Ala457Thr, XP_047276371.1:p.Ala454Ser, XP_047276371.1:p.Ala454Thr, NP_001380300.1:p.Ala432Ser, NP_001380300.1:p.Ala432Thr, NP_001380301.1:p.Ala420Ser, NP_001380301.1:p.Ala420Thr, NP_001380303.1:p.Ala454Ser, NP_001380303.1:p.Ala454Thr, XP_047276368.1:p.Ala454Ser, XP_047276368.1:p.Ala454Thr, NP_001380302.1:p.Ala391Ser, NP_001380302.1:p.Ala391Thr, NP_001380304.1:p.Ala420Ser, NP_001380304.1:p.Ala420Thr, XP_047276369.1:p.Ala457Ser, XP_047276369.1:p.Ala457Thr

Select item 14865442272.

rs1486544227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:135414402 (GRCh38)
7:135099151 (GRCh37)
Canonical SPDI:: NC_000007.14:135414401:T:C
Gene:: CNOT4 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135414402T>C, NC_000007.13:g.135099151T>C, NM_013316.4:c.490A>G, NM_013316.3:c.490A>G, NM_001008225.3:c.490A>G, NM_001008225.2:c.490A>G, NM_001190848.2:c.490A>G, NM_001190848.1:c.490A>G, NM_001190850.2:c.490A>G, NM_001190850.1:c.490A>G, NM_001190849.2:c.490A>G, NM_001190849.1:c.490A>G, NM_001190847.2:c.490A>G, NM_001190847.1:c.490A>G, XM_047420414.1:c.490A>G, NM_001393370.1:c.490A>G, XM_047420415.1:c.490A>G, NM_001393371.1:c.424A>G, NM_001393374.1:c.490A>G, XM_047420412.1:c.490A>G, NM_001393373.1:c.292A>G, XM_047420413.1:c.490A>G, NP_037448.2:p.Ile164Val, NP_001008226.1:p.Ile164Val, NP_001177777.1:p.Ile164Val, NP_001177779.1:p.Ile164Val, NP_001177778.1:p.Ile164Val, NP_001177776.1:p.Ile164Val, XP_047276370.1:p.Ile164Val, NP_001380299.1:p.Ile164Val, XP_047276371.1:p.Ile164Val, NP_001380300.1:p.Ile142Val, NP_001380303.1:p.Ile164Val, XP_047276368.1:p.Ile164Val, NP_001380302.1:p.Ile98Val, XP_047276369.1:p.Ile164Val

Select item 14860831653.

rs1486083165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:135438266 (GRCh38)
7:135123014 (GRCh37)
Canonical SPDI:: NC_000007.14:135438265:C:T
Gene:: CNOT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135438266C>T, NC_000007.13:g.135123014C>T, NM_013316.4:c.66G>A, NM_013316.3:c.66G>A, NM_001008225.3:c.66G>A, NM_001008225.2:c.66G>A, NM_001190848.2:c.66G>A, NM_001190848.1:c.66G>A, NM_001190850.2:c.66G>A, NM_001190850.1:c.66G>A, NM_001190849.2:c.66G>A, NM_001190849.1:c.66G>A, NM_001190847.2:c.66G>A, NM_001190847.1:c.66G>A, XM_047420414.1:c.66G>A, NM_001393370.1:c.66G>A, XM_047420415.1:c.66G>A, NM_001393371.1:c.66G>A, NM_001393372.1:c.66G>A, NM_001393374.1:c.66G>A, XM_047420412.1:c.66G>A, NM_001393373.1:c.66G>A, NM_001393375.1:c.66G>A, XM_047420413.1:c.66G>A

Select item 14829577054.

rs1482957705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:135363950 (GRCh38)
7:135048702 (GRCh37)
Canonical SPDI:: NC_000007.14:135363949:T:G
Gene:: CNOT4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.135363950T>G, NC_000007.13:g.135048702T>G, NM_001190850.2:c.1744A>C, NM_001190850.1:c.1744A>C, NM_001190849.2:c.1735A>C, NM_001190849.1:c.1735A>C, NM_001393370.1:c.1744A>C, NM_001393371.1:c.1669A>C, NM_001393372.1:c.1633A>C, XM_047420412.1:c.1735A>C, NM_001393373.1:c.1546A>C, NP_001177779.1:p.Asn582His, NP_001177778.1:p.Asn579His, NP_001380299.1:p.Asn582His, NP_001380300.1:p.Asn557His, NP_001380301.1:p.Asn545His, XP_047276368.1:p.Asn579His, NP_001380302.1:p.Asn516His

Select item 14827776655.

rs1482777665 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCAGTGTGG>- [Show Flanks]
Chromosome:: 7:135363125 (GRCh38)
7:135047877 (GRCh37)
Canonical SPDI:: NC_000007.14:135363123:GCCAGTGTGG:G
Gene:: CNOT4 (Varview)
Functional Consequence:: inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.135363125_135363133del, NC_000007.13:g.135047877_135047885del, NM_013316.4:c.1673_1681del, NM_013316.3:c.1673_1681del, NM_001190850.2:c.1895_1903del, NM_001190850.1:c.1895_1903del, NM_001190849.2:c.1886_1894del, NM_001190849.1:c.1886_1894del, NM_001190847.2:c.1682_1690del, NM_001190847.1:c.1682_1690del, NM_001393370.1:c.1895_1903del, NM_001393371.1:c.1820_1828del, NM_001393372.1:c.1784_1792del, NM_001393374.1:c.1673_1681del, XM_047420412.1:c.1886_1894del, NM_001393373.1:c.1697_1705del, NM_001393375.1:c.1571_1579del, XM_047420413.1:c.1682_1690del, NP_037448.2:p.Pro558_Trp560del, NP_001177779.1:p.Pro632_Trp634del, NP_001177778.1:p.Pro629_Trp631del, NP_001177776.1:p.Pro561_Trp563del, NP_001380299.1:p.Pro632_Trp634del, NP_001380300.1:p.Pro607_Trp609del, NP_001380301.1:p.Pro595_Trp597del, NP_001380303.1:p.Pro558_Trp560del, XP_047276368.1:p.Pro629_Trp631del, NP_001380302.1:p.Pro566_Trp568del, NP_001380304.1:p.Pro524_Trp526del, XP_047276369.1:p.Pro561_Trp563del

Select item 14806440606.

rs1480644060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:135363070 (GRCh38)
7:135047822 (GRCh37)
Canonical SPDI:: NC_000007.14:135363069:G:C
Gene:: CNOT4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.135363070G>C, NC_000007.13:g.135047822G>C, NM_013316.4:c.1735C>G, NM_013316.3:c.1735C>G, NM_001190850.2:c.1957C>G, NM_001190850.1:c.1957C>G, NM_001190849.2:c.1948C>G, NM_001190849.1:c.1948C>G, NM_001190847.2:c.1744C>G, NM_001190847.1:c.1744C>G, NM_001393370.1:c.1957C>G, NM_001393371.1:c.1882C>G, NM_001393372.1:c.1846C>G, NM_001393374.1:c.1735C>G, XM_047420412.1:c.1948C>G, NM_001393373.1:c.1759C>G, NM_001393375.1:c.1633C>G, XM_047420413.1:c.1744C>G, NP_037448.2:p.Gln579Glu, NP_001177779.1:p.Gln653Glu, NP_001177778.1:p.Gln650Glu, NP_001177776.1:p.Gln582Glu, NP_001380299.1:p.Gln653Glu, NP_001380300.1:p.Gln628Glu, NP_001380301.1:p.Gln616Glu, NP_001380303.1:p.Gln579Glu, XP_047276368.1:p.Gln650Glu, NP_001380302.1:p.Gln587Glu, NP_001380304.1:p.Gln545Glu, XP_047276369.1:p.Gln582Glu

Select item 14805103327.

rs1480510332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:135395830 (GRCh38)
7:135080582 (GRCh37)
Canonical SPDI:: NC_000007.14:135395829:T:C
Gene:: CNOT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.135395830T>C, NC_000007.13:g.135080582T>C, NM_013316.4:c.924A>G, NM_013316.3:c.924A>G, NM_001008225.3:c.924A>G, NM_001008225.2:c.924A>G, NM_001190848.2:c.933A>G, NM_001190848.1:c.933A>G, NM_001190850.2:c.933A>G, NM_001190850.1:c.933A>G, NM_001190849.2:c.924A>G, NM_001190849.1:c.924A>G, NM_001190847.2:c.933A>G, NM_001190847.1:c.933A>G, XM_047420414.1:c.933A>G, NM_001393370.1:c.933A>G, XM_047420415.1:c.924A>G, NM_001393371.1:c.858A>G, NM_001393372.1:c.822A>G, NM_001393374.1:c.924A>G, XM_047420412.1:c.924A>G, NM_001393373.1:c.735A>G, NM_001393375.1:c.822A>G, XM_047420413.1:c.933A>G

Select item 14790257368.

rs1479025736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:135394363 (GRCh38)
7:135079115 (GRCh37)
Canonical SPDI:: NC_000007.14:135394362:A:G
Gene:: CNOT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135394363A>G, NC_000007.13:g.135079115A>G, NM_013316.4:c.1173T>C, NM_013316.3:c.1173T>C, NM_001008225.3:c.1173T>C, NM_001008225.2:c.1173T>C, NM_001190848.2:c.1182T>C, NM_001190848.1:c.1182T>C, NM_001190850.2:c.1182T>C, NM_001190850.1:c.1182T>C, NM_001190849.2:c.1173T>C, NM_001190849.1:c.1173T>C, NM_001190847.2:c.1182T>C, NM_001190847.1:c.1182T>C, XM_047420414.1:c.1182T>C, NM_001393370.1:c.1182T>C, XM_047420415.1:c.1173T>C, NM_001393371.1:c.1107T>C, NM_001393372.1:c.1071T>C, NM_001393374.1:c.1173T>C, XM_047420412.1:c.1173T>C, NM_001393373.1:c.984T>C, NM_001393375.1:c.1071T>C, XM_047420413.1:c.1182T>C

Select item 14773577829.

rs1477357782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:135362989 (GRCh38)
7:135047741 (GRCh37)
Canonical SPDI:: NC_000007.14:135362988:G:A
Gene:: CNOT4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135362989G>A, NC_000007.13:g.135047741G>A, NM_013316.4:c.1816C>T, NM_013316.3:c.1816C>T, NM_001190850.2:c.2038C>T, NM_001190850.1:c.2038C>T, NM_001190849.2:c.2029C>T, NM_001190849.1:c.2029C>T, NM_001190847.2:c.1825C>T, NM_001190847.1:c.1825C>T, NM_001393370.1:c.2038C>T, NM_001393371.1:c.1963C>T, NM_001393372.1:c.1927C>T, NM_001393374.1:c.1816C>T, XM_047420412.1:c.2029C>T, NM_001393373.1:c.1840C>T, NM_001393375.1:c.1714C>T, XM_047420413.1:c.1825C>T, NP_037448.2:p.Pro606Ser, NP_001177779.1:p.Pro680Ser, NP_001177778.1:p.Pro677Ser, NP_001177776.1:p.Pro609Ser, NP_001380299.1:p.Pro680Ser, NP_001380300.1:p.Pro655Ser, NP_001380301.1:p.Pro643Ser, NP_001380303.1:p.Pro606Ser, XP_047276368.1:p.Pro677Ser, NP_001380302.1:p.Pro614Ser, NP_001380304.1:p.Pro572Ser, XP_047276369.1:p.Pro609Ser

Select item 147468847110.

rs1474688471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:135395788 (GRCh38)
7:135080540 (GRCh37)
Canonical SPDI:: NC_000007.14:135395787:A:C
Gene:: CNOT4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.135395788A>C, NC_000007.13:g.135080540A>C, NM_013316.4:c.966T>G, NM_013316.3:c.966T>G, NM_001008225.3:c.966T>G, NM_001008225.2:c.966T>G, NM_001190848.2:c.975T>G, NM_001190848.1:c.975T>G, NM_001190850.2:c.975T>G, NM_001190850.1:c.975T>G, NM_001190849.2:c.966T>G, NM_001190849.1:c.966T>G, NM_001190847.2:c.975T>G, NM_001190847.1:c.975T>G, XM_047420414.1:c.975T>G, NM_001393370.1:c.975T>G, XM_047420415.1:c.966T>G, NM_001393371.1:c.900T>G, NM_001393372.1:c.864T>G, NM_001393374.1:c.966T>G, XM_047420412.1:c.966T>G, NM_001393373.1:c.777T>G, NM_001393375.1:c.864T>G, XM_047420413.1:c.975T>G

Select item 147180226311.

rs1471802263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:135362924 (GRCh38)
7:135047676 (GRCh37)
Canonical SPDI:: NC_000007.14:135362923:G:A
Gene:: CNOT4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.135362924G>A, NC_000007.13:g.135047676G>A, NM_013316.4:c.1881C>T, NM_013316.3:c.1881C>T, NM_001190850.2:c.2103C>T, NM_001190850.1:c.2103C>T, NM_001190849.2:c.2094C>T, NM_001190849.1:c.2094C>T, NM_001190847.2:c.1890C>T, NM_001190847.1:c.1890C>T, NM_001393370.1:c.2103C>T, NM_001393371.1:c.2028C>T, NM_001393372.1:c.1992C>T, NM_001393374.1:c.1881C>T, XM_047420412.1:c.2094C>T, NM_001393373.1:c.1905C>T, NM_001393375.1:c.1779C>T, XM_047420413.1:c.1890C>T

Select item 147005125912.

rs1470051259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:135363006 (GRCh38)
7:135047758 (GRCh37)
Canonical SPDI:: NC_000007.14:135363005:T:A,NC_000007.14:135363005:T:C,NC_000007.14:135363005:T:G
Gene:: CNOT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000007/1 (GnomAD)
G=0.006004/11 (Korea1K)
HGVS:: NC_000007.14:g.135363006T>A, NC_000007.14:g.135363006T>C, NC_000007.14:g.135363006T>G, NC_000007.13:g.135047758T>A, NC_000007.13:g.135047758T>C, NC_000007.13:g.135047758T>G, NM_013316.4:c.1799A>T, NM_013316.4:c.1799A>G, NM_013316.4:c.1799A>C, NM_013316.3:c.1799A>T, NM_013316.3:c.1799A>G, NM_013316.3:c.1799A>C, NM_001190850.2:c.2021A>T, NM_001190850.2:c.2021A>G, NM_001190850.2:c.2021A>C, NM_001190850.1:c.2021A>T, NM_001190850.1:c.2021A>G, NM_001190850.1:c.2021A>C, NM_001190849.2:c.2012A>T, NM_001190849.2:c.2012A>G, NM_001190849.2:c.2012A>C, NM_001190849.1:c.2012A>T, NM_001190849.1:c.2012A>G, NM_001190849.1:c.2012A>C, NM_001190847.2:c.1808A>T, NM_001190847.2:c.1808A>G, NM_001190847.2:c.1808A>C, NM_001190847.1:c.1808A>T, NM_001190847.1:c.1808A>G, NM_001190847.1:c.1808A>C, NM_001393370.1:c.2021A>T, NM_001393370.1:c.2021A>G, NM_001393370.1:c.2021A>C, NM_001393371.1:c.1946A>T, NM_001393371.1:c.1946A>G, NM_001393371.1:c.1946A>C, NM_001393372.1:c.1910A>T, NM_001393372.1:c.1910A>G, NM_001393372.1:c.1910A>C, NM_001393374.1:c.1799A>T, NM_001393374.1:c.1799A>G, NM_001393374.1:c.1799A>C, XM_047420412.1:c.2012A>T, XM_047420412.1:c.2012A>G, XM_047420412.1:c.2012A>C, NM_001393373.1:c.1823A>T, NM_001393373.1:c.1823A>G, NM_001393373.1:c.1823A>C, NM_001393375.1:c.1697A>T, NM_001393375.1:c.1697A>G, NM_001393375.1:c.1697A>C, XM_047420413.1:c.1808A>T, XM_047420413.1:c.1808A>G, XM_047420413.1:c.1808A>C, NP_037448.2:p.Tyr600Phe, NP_037448.2:p.Tyr600Cys, NP_037448.2:p.Tyr600Ser, NP_001177779.1:p.Tyr674Phe, NP_001177779.1:p.Tyr674Cys, NP_001177779.1:p.Tyr674Ser, NP_001177778.1:p.Tyr671Phe, NP_001177778.1:p.Tyr671Cys, NP_001177778.1:p.Tyr671Ser, NP_001177776.1:p.Tyr603Phe, NP_001177776.1:p.Tyr603Cys, NP_001177776.1:p.Tyr603Ser, NP_001380299.1:p.Tyr674Phe, NP_001380299.1:p.Tyr674Cys, NP_001380299.1:p.Tyr674Ser, NP_001380300.1:p.Tyr649Phe, NP_001380300.1:p.Tyr649Cys, NP_001380300.1:p.Tyr649Ser, NP_001380301.1:p.Tyr637Phe, NP_001380301.1:p.Tyr637Cys, NP_001380301.1:p.Tyr637Ser, NP_001380303.1:p.Tyr600Phe, NP_001380303.1:p.Tyr600Cys, NP_001380303.1:p.Tyr600Ser, XP_047276368.1:p.Tyr671Phe, XP_047276368.1:p.Tyr671Cys, XP_047276368.1:p.Tyr671Ser, NP_001380302.1:p.Tyr608Phe, NP_001380302.1:p.Tyr608Cys, NP_001380302.1:p.Tyr608Ser, NP_001380304.1:p.Tyr566Phe, NP_001380304.1:p.Tyr566Cys, NP_001380304.1:p.Tyr566Ser, XP_047276369.1:p.Tyr603Phe, XP_047276369.1:p.Tyr603Cys, XP_047276369.1:p.Tyr603Ser

Select item 146977920213.

rs1469779202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:135422287 (GRCh38)
7:135107036 (GRCh37)
Canonical SPDI:: NC_000007.14:135422286:C:T
Gene:: CNOT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135422287C>T, NC_000007.13:g.135107036C>T, NM_013316.4:c.241G>A, NM_013316.3:c.241G>A, NM_001008225.3:c.241G>A, NM_001008225.2:c.241G>A, NM_001190848.2:c.241G>A, NM_001190848.1:c.241G>A, NM_001190850.2:c.241G>A, NM_001190850.1:c.241G>A, NM_001190849.2:c.241G>A, NM_001190849.1:c.241G>A, NM_001190847.2:c.241G>A, NM_001190847.1:c.241G>A, XM_047420414.1:c.241G>A, NM_001393370.1:c.241G>A, XM_047420415.1:c.241G>A, NM_001393371.1:c.241G>A, NM_001393372.1:c.241G>A, NM_001393374.1:c.241G>A, XM_047420412.1:c.241G>A, NM_001393375.1:c.241G>A, XM_047420413.1:c.241G>A, NP_037448.2:p.Glu81Lys, NP_001008226.1:p.Glu81Lys, NP_001177777.1:p.Glu81Lys, NP_001177779.1:p.Glu81Lys, NP_001177778.1:p.Glu81Lys, NP_001177776.1:p.Glu81Lys, XP_047276370.1:p.Glu81Lys, NP_001380299.1:p.Glu81Lys, XP_047276371.1:p.Glu81Lys, NP_001380300.1:p.Glu81Lys, NP_001380301.1:p.Glu81Lys, NP_001380303.1:p.Glu81Lys, XP_047276368.1:p.Glu81Lys, NP_001380304.1:p.Glu81Lys, XP_047276369.1:p.Glu81Lys

Select item 146806407314.

rs1468064073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:135395638 (GRCh38)
7:135080390 (GRCh37)
Canonical SPDI:: NC_000007.14:135395637:T:C
Gene:: CNOT4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135395638T>C, NC_000007.13:g.135080390T>C, NM_013316.4:c.1116A>G, NM_013316.3:c.1116A>G, NM_001008225.3:c.1116A>G, NM_001008225.2:c.1116A>G, NM_001190848.2:c.1125A>G, NM_001190848.1:c.1125A>G, NM_001190850.2:c.1125A>G, NM_001190850.1:c.1125A>G, NM_001190849.2:c.1116A>G, NM_001190849.1:c.1116A>G, NM_001190847.2:c.1125A>G, NM_001190847.1:c.1125A>G, XM_047420414.1:c.1125A>G, NM_001393370.1:c.1125A>G, XM_047420415.1:c.1116A>G, NM_001393371.1:c.1050A>G, NM_001393372.1:c.1014A>G, NM_001393374.1:c.1116A>G, XM_047420412.1:c.1116A>G, NM_001393373.1:c.927A>G, NM_001393375.1:c.1014A>G, XM_047420413.1:c.1125A>G

Select item 146493365115.

rs1464933651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:135362931 (GRCh38)
7:135047683 (GRCh37)
Canonical SPDI:: NC_000007.14:135362930:T:C
Gene:: CNOT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135362931T>C, NC_000007.13:g.135047683T>C, NM_013316.4:c.1874A>G, NM_013316.3:c.1874A>G, NM_001190850.2:c.2096A>G, NM_001190850.1:c.2096A>G, NM_001190849.2:c.2087A>G, NM_001190849.1:c.2087A>G, NM_001190847.2:c.1883A>G, NM_001190847.1:c.1883A>G, NM_001393370.1:c.2096A>G, NM_001393371.1:c.2021A>G, NM_001393372.1:c.1985A>G, NM_001393374.1:c.1874A>G, XM_047420412.1:c.2087A>G, NM_001393373.1:c.1898A>G, NM_001393375.1:c.1772A>G, XM_047420413.1:c.1883A>G, NP_037448.2:p.Lys625Arg, NP_001177779.1:p.Lys699Arg, NP_001177778.1:p.Lys696Arg, NP_001177776.1:p.Lys628Arg, NP_001380299.1:p.Lys699Arg, NP_001380300.1:p.Lys674Arg, NP_001380301.1:p.Lys662Arg, NP_001380303.1:p.Lys625Arg, XP_047276368.1:p.Lys696Arg, NP_001380302.1:p.Lys633Arg, NP_001380304.1:p.Lys591Arg, XP_047276369.1:p.Lys628Arg

Select item 146388382016.

rs1463883820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:135363884 (GRCh38)
7:135048636 (GRCh37)
Canonical SPDI:: NC_000007.14:135363883:C:A,NC_000007.14:135363883:C:T
Gene:: CNOT4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135363884C>A, NC_000007.14:g.135363884C>T, NC_000007.13:g.135048636C>A, NC_000007.13:g.135048636C>T, NM_001190850.2:c.1810G>T, NM_001190850.2:c.1810G>A, NM_001190850.1:c.1810G>T, NM_001190850.1:c.1810G>A, NM_001190849.2:c.1801G>T, NM_001190849.2:c.1801G>A, NM_001190849.1:c.1801G>T, NM_001190849.1:c.1801G>A, NM_001393370.1:c.1810G>T, NM_001393370.1:c.1810G>A, NM_001393371.1:c.1735G>T, NM_001393371.1:c.1735G>A, NM_001393372.1:c.1699G>T, NM_001393372.1:c.1699G>A, XM_047420412.1:c.1801G>T, XM_047420412.1:c.1801G>A, NM_001393373.1:c.1612G>T, NM_001393373.1:c.1612G>A, NP_001177779.1:p.Gly604Cys, NP_001177779.1:p.Gly604Ser, NP_001177778.1:p.Gly601Cys, NP_001177778.1:p.Gly601Ser, NP_001380299.1:p.Gly604Cys, NP_001380299.1:p.Gly604Ser, NP_001380300.1:p.Gly579Cys, NP_001380300.1:p.Gly579Ser, NP_001380301.1:p.Gly567Cys, NP_001380301.1:p.Gly567Ser, XP_047276368.1:p.Gly601Cys, XP_047276368.1:p.Gly601Ser, NP_001380302.1:p.Gly538Cys, NP_001380302.1:p.Gly538Ser

Select item 146267090017.

rs1462670900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:135362912 (GRCh38)
7:135047664 (GRCh37)
Canonical SPDI:: NC_000007.14:135362911:T:C
Gene:: CNOT4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.135362912T>C, NC_000007.13:g.135047664T>C, NM_013316.4:c.1893A>G, NM_013316.3:c.1893A>G, NM_001190850.2:c.2115A>G, NM_001190850.1:c.2115A>G, NM_001190849.2:c.2106A>G, NM_001190849.1:c.2106A>G, NM_001190847.2:c.1902A>G, NM_001190847.1:c.1902A>G, NM_001393370.1:c.2115A>G, NM_001393371.1:c.2040A>G, NM_001393372.1:c.2004A>G, NM_001393374.1:c.1893A>G, XM_047420412.1:c.2106A>G, NM_001393373.1:c.1917A>G, NM_001393375.1:c.1791A>G, XM_047420413.1:c.1902A>G

Select item 146206779518.

rs1462067795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:135422305 (GRCh38)
7:135107054 (GRCh37)
Canonical SPDI:: NC_000007.14:135422304:G:A
Gene:: CNOT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135422305G>A, NC_000007.13:g.135107054G>A, NM_013316.4:c.223C>T, NM_013316.3:c.223C>T, NM_001008225.3:c.223C>T, NM_001008225.2:c.223C>T, NM_001190848.2:c.223C>T, NM_001190848.1:c.223C>T, NM_001190850.2:c.223C>T, NM_001190850.1:c.223C>T, NM_001190849.2:c.223C>T, NM_001190849.1:c.223C>T, NM_001190847.2:c.223C>T, NM_001190847.1:c.223C>T, XM_047420414.1:c.223C>T, NM_001393370.1:c.223C>T, XM_047420415.1:c.223C>T, NM_001393371.1:c.223C>T, NM_001393372.1:c.223C>T, NM_001393374.1:c.223C>T, XM_047420412.1:c.223C>T, NM_001393375.1:c.223C>T, XM_047420413.1:c.223C>T

Select item 146102469919.

rs1461024699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:135413599 (GRCh38)
7:135098348 (GRCh37)
Canonical SPDI:: NC_000007.14:135413598:T:C,NC_000007.14:135413598:T:G
Gene:: CNOT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.135413599T>C, NC_000007.14:g.135413599T>G, NC_000007.13:g.135098348T>C, NC_000007.13:g.135098348T>G, NM_013316.4:c.576A>G, NM_013316.4:c.576A>C, NM_013316.3:c.576A>G, NM_013316.3:c.576A>C, NM_001008225.3:c.576A>G, NM_001008225.3:c.576A>C, NM_001008225.2:c.576A>G, NM_001008225.2:c.576A>C, NM_001190848.2:c.576A>G, NM_001190848.2:c.576A>C, NM_001190848.1:c.576A>G, NM_001190848.1:c.576A>C, NM_001190850.2:c.576A>G, NM_001190850.2:c.576A>C, NM_001190850.1:c.576A>G, NM_001190850.1:c.576A>C, NM_001190849.2:c.576A>G, NM_001190849.2:c.576A>C, NM_001190849.1:c.576A>G, NM_001190849.1:c.576A>C, NM_001190847.2:c.576A>G, NM_001190847.2:c.576A>C, NM_001190847.1:c.576A>G, NM_001190847.1:c.576A>C, XM_047420414.1:c.576A>G, XM_047420414.1:c.576A>C, NM_001393370.1:c.576A>G, NM_001393370.1:c.576A>C, XM_047420415.1:c.576A>G, XM_047420415.1:c.576A>C, NM_001393371.1:c.510A>G, NM_001393371.1:c.510A>C, NM_001393372.1:c.474A>G, NM_001393372.1:c.474A>C, NM_001393374.1:c.576A>G, NM_001393374.1:c.576A>C, XM_047420412.1:c.576A>G, XM_047420412.1:c.576A>C, NM_001393373.1:c.378A>G, NM_001393373.1:c.378A>C, NM_001393375.1:c.474A>G, NM_001393375.1:c.474A>C, XM_047420413.1:c.576A>G, XM_047420413.1:c.576A>C

Select item 146034487920.

rs1460344879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:135410604 (GRCh38)
7:135095354 (GRCh37)
Canonical SPDI:: NC_000007.14:135410603:T:C
Gene:: CNOT4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135410604T>C, NC_000007.13:g.135095354T>C, NM_013316.4:c.732A>G, NM_013316.3:c.732A>G, NM_001008225.3:c.732A>G, NM_001008225.2:c.732A>G, NM_001190848.2:c.732A>G, NM_001190848.1:c.732A>G, NM_001190850.2:c.732A>G, NM_001190850.1:c.732A>G, NM_001190849.2:c.732A>G, NM_001190849.1:c.732A>G, NM_001190847.2:c.732A>G, NM_001190847.1:c.732A>G, XM_047420414.1:c.732A>G, NM_001393370.1:c.732A>G, XM_047420415.1:c.732A>G, NM_001393371.1:c.666A>G, NM_001393372.1:c.630A>G, NM_001393374.1:c.732A>G, XM_047420412.1:c.732A>G, NM_001393373.1:c.534A>G, NM_001393375.1:c.630A>G, XM_047420413.1:c.732A>G

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