SNP Links for Protein (Select 148352331) - SNP

Select item 14876974611.

rs1487697461 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 7:35801243 (GRCh38)
7:35840853 (GRCh37)
Canonical SPDI:: NC_000007.14:35801239:GAGGAG:GAG
Gene:: SEPTIN7 (Varview), SEPTIN7-DT (Varview)
Functional Consequence:: inframe_deletion,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.35801240GAG[1], NC_000007.13:g.35840850GAG[1], NM_001788.6:c.31GAG[1], NM_001788.5:c.31GAG[1], XM_006715806.4:c.31GAG[1], XM_006715806.3:c.31GAG[1], XM_006715806.2:c.31GAG[1], XM_006715806.1:c.31GAG[1], NM_001011553.4:c.31GAG[1], NM_001011553.3:c.31GAG[1], XM_011515656.3:c.31GAG[1], XM_011515656.2:c.31GAG[1], XM_011515656.1:c.31GAG[1], XM_011515661.3:c.31GAG[1], XM_011515661.2:c.31GAG[1], XM_011515661.1:c.31GAG[1], NM_001363715.2:c.-667GAG[1], NM_001363715.1:c.-667GAG[1], XM_047421097.1:c.-124GAG[1], XM_047421095.1:c.31GAG[1], NM_001242956.1:c.31GAG[1], NM_001375299.1:c.-124GAG[1], NP_001779.3:p.Glu12del, XP_006715869.1:p.Glu12del, NP_001011553.2:p.Glu12del, XP_011513958.1:p.Glu12del, XP_011513963.1:p.Glu12del, XP_047277051.1:p.Glu12del, NP_001229885.1:p.Glu12del

Select item 14871435302.

rs1487143530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:35890777 (GRCh38)
7:35930387 (GRCh37)
Canonical SPDI:: NC_000007.14:35890776:A:C
Gene:: SEPTIN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.35890777A>C, NC_000007.13:g.35930387A>C, NM_001788.6:c.982A>C, NM_001788.5:c.982A>C, XM_006715806.4:c.982A>C, XM_006715806.3:c.982A>C, XM_006715806.2:c.982A>C, XM_006715806.1:c.982A>C, NM_001011553.4:c.979A>C, NM_001011553.3:c.979A>C, XM_011515656.3:c.982A>C, XM_011515656.2:c.982A>C, XM_011515656.1:c.982A>C, XM_011515661.3:c.982A>C, XM_011515661.2:c.982A>C, XM_011515661.1:c.982A>C, NM_001363715.2:c.823A>C, NM_001363715.1:c.823A>C, XM_047421097.1:c.823A>C, XM_047421095.1:c.979A>C, NM_001242956.1:c.874A>C, XM_047421096.1:c.892A>C, NM_001375299.1:c.823A>C, NP_001779.3:p.Lys328Gln, XP_006715869.1:p.Lys328Gln, NP_001011553.2:p.Lys327Gln, XP_011513958.1:p.Lys328Gln, XP_011513963.1:p.Lys328Gln, NP_001350644.1:p.Lys275Gln, XP_047277053.1:p.Lys275Gln, XP_047277051.1:p.Lys327Gln, NP_001229885.1:p.Lys292Gln, XP_047277052.1:p.Lys298Gln, NP_001362228.1:p.Lys275Gln

Select item 14867348433.

rs1486734843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:35890697 (GRCh38)
7:35930307 (GRCh37)
Canonical SPDI:: NC_000007.14:35890696:C:T
Gene:: SEPTIN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.35890697C>T, NC_000007.13:g.35930307C>T, NM_001788.6:c.902C>T, NM_001788.5:c.902C>T, XM_006715806.4:c.902C>T, XM_006715806.3:c.902C>T, XM_006715806.2:c.902C>T, XM_006715806.1:c.902C>T, NM_001011553.4:c.899C>T, NM_001011553.3:c.899C>T, XM_011515656.3:c.902C>T, XM_011515656.2:c.902C>T, XM_011515656.1:c.902C>T, XM_011515661.3:c.902C>T, XM_011515661.2:c.902C>T, XM_011515661.1:c.902C>T, NM_001363715.2:c.743C>T, NM_001363715.1:c.743C>T, XM_047421097.1:c.743C>T, XM_047421095.1:c.899C>T, NM_001242956.1:c.794C>T, XM_047421096.1:c.812C>T, NM_001375299.1:c.743C>T, NP_001779.3:p.Thr301Ile, XP_006715869.1:p.Thr301Ile, NP_001011553.2:p.Thr300Ile, XP_011513958.1:p.Thr301Ile, XP_011513963.1:p.Thr301Ile, NP_001350644.1:p.Thr248Ile, XP_047277053.1:p.Thr248Ile, XP_047277051.1:p.Thr300Ile, NP_001229885.1:p.Thr265Ile, XP_047277052.1:p.Thr271Ile, NP_001362228.1:p.Thr248Ile

Select item 14864719794.

rs1486471979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:35885860 (GRCh38)
7:35925470 (GRCh37)
Canonical SPDI:: NC_000007.14:35885859:C:T
Gene:: SEPTIN7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.35885860C>T, NC_000007.13:g.35925470C>T, NM_001788.6:c.853C>T, NM_001788.5:c.853C>T, XM_006715806.4:c.853C>T, XM_006715806.3:c.853C>T, XM_006715806.2:c.853C>T, XM_006715806.1:c.853C>T, NM_001011553.4:c.850C>T, NM_001011553.3:c.850C>T, XM_011515656.3:c.853C>T, XM_011515656.2:c.853C>T, XM_011515656.1:c.853C>T, XM_011515661.3:c.853C>T, XM_011515661.2:c.853C>T, XM_011515661.1:c.853C>T, NM_001363715.2:c.694C>T, NM_001363715.1:c.694C>T, XM_047421097.1:c.694C>T, XM_047421095.1:c.850C>T, NM_001242956.1:c.745C>T, XM_047421096.1:c.763C>T, NM_001375299.1:c.694C>T

Select item 14864214035.

rs1486421403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:35904281 (GRCh38)
7:35943891 (GRCh37)
Canonical SPDI:: NC_000007.14:35904280:G:A
Gene:: SEPTIN7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.35904281G>A, NC_000007.13:g.35943891G>A, NM_001788.6:c.1302G>A, NM_001788.5:c.1302G>A, XM_006715806.4:c.1335G>A, XM_006715806.3:c.1335G>A, XM_006715806.2:c.1335G>A, XM_006715806.1:c.1335G>A, NM_001011553.4:c.1299G>A, NM_001011553.3:c.1299G>A, NM_001363715.2:c.1143G>A, NM_001363715.1:c.1143G>A, XM_047421097.1:c.1176G>A, XM_047421095.1:c.1299G>A, NM_001242956.1:c.1194G>A, XM_047421096.1:c.1212G>A, NM_001375299.1:c.1143G>A

Select item 14860977416.

rs1486097741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:35898278 (GRCh38)
7:35937888 (GRCh37)
Canonical SPDI:: NC_000007.14:35898277:A:G
Gene:: SEPTIN7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.35898278A>G, NC_000007.13:g.35937888A>G, NM_001788.6:c.1029A>G, NM_001788.5:c.1029A>G, XM_006715806.4:c.1062A>G, XM_006715806.3:c.1062A>G, XM_006715806.2:c.1062A>G, XM_006715806.1:c.1062A>G, NM_001011553.4:c.1026A>G, NM_001011553.3:c.1026A>G, XM_011515656.3:c.1062A>G, XM_011515656.2:c.1062A>G, XM_011515656.1:c.1062A>G, XM_011515661.3:c.1062A>G, XM_011515661.2:c.1062A>G, XM_011515661.1:c.1062A>G, NM_001363715.2:c.870A>G, NM_001363715.1:c.870A>G, XM_047421097.1:c.903A>G, XM_047421095.1:c.1026A>G, NM_001242956.1:c.921A>G, XM_047421096.1:c.939A>G, NM_001375299.1:c.870A>G

Select item 14821441547.

rs1482144154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:35879922 (GRCh38)
7:35919532 (GRCh37)
Canonical SPDI:: NC_000007.14:35879921:C:T
Gene:: SEPTIN7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.35879922C>T, NC_000007.13:g.35919532C>T, NM_001788.6:c.612C>T, NM_001788.5:c.612C>T, XM_006715806.4:c.612C>T, XM_006715806.3:c.612C>T, XM_006715806.2:c.612C>T, XM_006715806.1:c.612C>T, NM_001011553.4:c.609C>T, NM_001011553.3:c.609C>T, XM_011515656.3:c.612C>T, XM_011515656.2:c.612C>T, XM_011515656.1:c.612C>T, XM_011515661.3:c.612C>T, XM_011515661.2:c.612C>T, XM_011515661.1:c.612C>T, NM_001363715.2:c.453C>T, NM_001363715.1:c.453C>T, XM_047421097.1:c.453C>T, XM_047421095.1:c.609C>T, NM_001242956.1:c.504C>T, XM_047421096.1:c.522C>T, NM_001375299.1:c.453C>T

Select item 14773515188.

rs1477351518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:35872713 (GRCh38)
7:35912323 (GRCh37)
Canonical SPDI:: NC_000007.14:35872712:G:C
Gene:: SEPTIN7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.35872713G>C, NC_000007.13:g.35912323G>C, NM_001788.6:c.324G>C, NM_001788.5:c.324G>C, XM_006715806.4:c.324G>C, XM_006715806.3:c.324G>C, XM_006715806.2:c.324G>C, XM_006715806.1:c.324G>C, NM_001011553.4:c.321G>C, NM_001011553.3:c.321G>C, XM_011515656.3:c.324G>C, XM_011515656.2:c.324G>C, XM_011515656.1:c.324G>C, XM_011515661.3:c.324G>C, XM_011515661.2:c.324G>C, XM_011515661.1:c.324G>C, NM_001363715.2:c.165G>C, NM_001363715.1:c.165G>C, XM_047421097.1:c.165G>C, XM_047421095.1:c.321G>C, NM_001242956.1:c.216G>C, XM_047421096.1:c.234G>C, NM_001375299.1:c.165G>C

Select item 14736738899.

rs1473673889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:35832894 (GRCh38)
7:35872504 (GRCh37)
Canonical SPDI:: NC_000007.14:35832893:G:A
Gene:: SEPTIN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.35832894G>A, NC_000007.13:g.35872504G>A, NM_001788.6:c.163G>A, NM_001788.5:c.163G>A, XM_006715806.4:c.163G>A, XM_006715806.3:c.163G>A, XM_006715806.2:c.163G>A, XM_006715806.1:c.163G>A, NM_001011553.4:c.160G>A, NM_001011553.3:c.160G>A, XM_011515656.3:c.163G>A, XM_011515656.2:c.163G>A, XM_011515656.1:c.163G>A, XM_011515661.3:c.163G>A, XM_011515661.2:c.163G>A, XM_011515661.1:c.163G>A, NM_001363715.2:c.4G>A, NM_001363715.1:c.4G>A, XM_047421097.1:c.4G>A, XM_047421095.1:c.160G>A, NM_001375299.1:c.4G>A, NP_001779.3:p.Val55Ile, XP_006715869.1:p.Val55Ile, NP_001011553.2:p.Val54Ile, XP_011513958.1:p.Val55Ile, XP_011513963.1:p.Val55Ile, NP_001350644.1:p.Val2Ile, XP_047277053.1:p.Val2Ile, XP_047277051.1:p.Val54Ile, NP_001362228.1:p.Val2Ile

Select item 147362284410.

rs1473622844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:35882498 (GRCh38)
7:35922108 (GRCh37)
Canonical SPDI:: NC_000007.14:35882497:C:T
Gene:: SEPTIN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.35882498C>T, NC_000007.13:g.35922108C>T, NM_001788.6:c.645C>T, NM_001788.5:c.645C>T, XM_006715806.4:c.645C>T, XM_006715806.3:c.645C>T, XM_006715806.2:c.645C>T, XM_006715806.1:c.645C>T, NM_001011553.4:c.642C>T, NM_001011553.3:c.642C>T, XM_011515656.3:c.645C>T, XM_011515656.2:c.645C>T, XM_011515656.1:c.645C>T, XM_011515661.3:c.645C>T, XM_011515661.2:c.645C>T, XM_011515661.1:c.645C>T, NM_001363715.2:c.486C>T, NM_001363715.1:c.486C>T, XM_047421097.1:c.486C>T, XM_047421095.1:c.642C>T, NM_001242956.1:c.537C>T, XM_047421096.1:c.555C>T, NM_001375299.1:c.486C>T

Select item 147148064511.

rs1471480645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:35898302 (GRCh38)
7:35937912 (GRCh37)
Canonical SPDI:: NC_000007.14:35898301:G:A
Gene:: SEPTIN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.35898302G>A, NC_000007.13:g.35937912G>A, NM_001788.6:c.1053G>A, NM_001788.5:c.1053G>A, XM_006715806.4:c.1086G>A, XM_006715806.3:c.1086G>A, XM_006715806.2:c.1086G>A, XM_006715806.1:c.1086G>A, NM_001011553.4:c.1050G>A, NM_001011553.3:c.1050G>A, XM_011515656.3:c.1086G>A, XM_011515656.2:c.1086G>A, XM_011515656.1:c.1086G>A, XM_011515661.3:c.1086G>A, XM_011515661.2:c.1086G>A, XM_011515661.1:c.1086G>A, NM_001363715.2:c.894G>A, NM_001363715.1:c.894G>A, XM_047421097.1:c.927G>A, XM_047421095.1:c.1050G>A, NM_001242956.1:c.945G>A, XM_047421096.1:c.963G>A, NM_001375299.1:c.894G>A

Select item 147038973312.

rs1470389733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:35801263 (GRCh38)
7:35840873 (GRCh37)
Canonical SPDI:: NC_000007.14:35801262:C:G
Gene:: SEPTIN7 (Varview), SEPTIN7-DT (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.00001/1 (GnomAD_exomes)
G=0.000045/12 (TOPMED)
G=0.00006/7 (GnomAD)
HGVS:: NC_000007.14:g.35801263C>G, NC_000007.13:g.35840873C>G, NM_001788.6:c.54C>G, NM_001788.5:c.54C>G, XM_006715806.4:c.54C>G, XM_006715806.3:c.54C>G, XM_006715806.2:c.54C>G, XM_006715806.1:c.54C>G, NM_001011553.4:c.54C>G, NM_001011553.3:c.54C>G, XM_011515656.3:c.54C>G, XM_011515656.2:c.54C>G, XM_011515656.1:c.54C>G, XM_011515661.3:c.54C>G, XM_011515661.2:c.54C>G, XM_011515661.1:c.54C>G, NM_001363715.2:c.-644C>G, NM_001363715.1:c.-644C>G, XM_047421097.1:c.-101C>G, XM_047421095.1:c.54C>G, NM_001242956.1:c.54C>G, NM_001375299.1:c.-101C>G, NP_001779.3:p.Ser18Arg, XP_006715869.1:p.Ser18Arg, NP_001011553.2:p.Ser18Arg, XP_011513958.1:p.Ser18Arg, XP_011513963.1:p.Ser18Arg, XP_047277051.1:p.Ser18Arg, NP_001229885.1:p.Ser18Arg

Select item 147027240313.

rs1470272403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:35882506 (GRCh38)
7:35922116 (GRCh37)
Canonical SPDI:: NC_000007.14:35882505:A:G
Gene:: SEPTIN7 (Varview)
Functional Consequence:: 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.35882506A>G, NC_000007.13:g.35922116A>G, NM_001788.6:c.653A>G, NM_001788.5:c.653A>G, XM_006715806.4:c.653A>G, XM_006715806.3:c.653A>G, XM_006715806.2:c.653A>G, XM_006715806.1:c.653A>G, NM_001011553.4:c.650A>G, NM_001011553.3:c.650A>G, XM_011515656.3:c.653A>G, XM_011515656.2:c.653A>G, XM_011515656.1:c.653A>G, XM_011515661.3:c.653A>G, XM_011515661.2:c.653A>G, XM_011515661.1:c.653A>G, NM_001363715.2:c.494A>G, NM_001363715.1:c.494A>G, XM_047421097.1:c.494A>G, XM_047421095.1:c.650A>G, NM_001242956.1:c.545A>G, XM_047421096.1:c.563A>G, NM_001375299.1:c.494A>G, NP_001779.3:p.His218Arg, XP_006715869.1:p.His218Arg, NP_001011553.2:p.His217Arg, XP_011513958.1:p.His218Arg, XP_011513963.1:p.His218Arg, NP_001350644.1:p.His165Arg, XP_047277053.1:p.His165Arg, XP_047277051.1:p.His217Arg, NP_001229885.1:p.His182Arg, XP_047277052.1:p.His188Arg, NP_001362228.1:p.His165Arg

Select item 146951014514.

rs1469510145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:35801232 (GRCh38)
7:35840842 (GRCh37)
Canonical SPDI:: NC_000007.14:35801231:C:T
Gene:: SEPTIN7 (Varview), SEPTIN7-DT (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000007.14:g.35801232C>T, NC_000007.13:g.35840842C>T, NM_001788.6:c.23C>T, NM_001788.5:c.23C>T, XM_006715806.4:c.23C>T, XM_006715806.3:c.23C>T, XM_006715806.2:c.23C>T, XM_006715806.1:c.23C>T, NM_001011553.4:c.23C>T, NM_001011553.3:c.23C>T, XM_011515656.3:c.23C>T, XM_011515656.2:c.23C>T, XM_011515656.1:c.23C>T, XM_011515661.3:c.23C>T, XM_011515661.2:c.23C>T, XM_011515661.1:c.23C>T, NM_001363715.2:c.-675C>T, NM_001363715.1:c.-675C>T, XM_047421097.1:c.-132C>T, XM_047421095.1:c.23C>T, NM_001242956.1:c.23C>T, NM_001375299.1:c.-132C>T, NP_001779.3:p.Ala8Val, XP_006715869.1:p.Ala8Val, NP_001011553.2:p.Ala8Val, XP_011513958.1:p.Ala8Val, XP_011513963.1:p.Ala8Val, XP_047277051.1:p.Ala8Val, NP_001229885.1:p.Ala8Val

Select item 146889243415.

rs1468892434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:35890672 (GRCh38)
7:35930282 (GRCh37)
Canonical SPDI:: NC_000007.14:35890671:C:A
Gene:: SEPTIN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.35890672C>A, NC_000007.13:g.35930282C>A, NM_001788.6:c.877C>A, NM_001788.5:c.877C>A, XM_006715806.4:c.877C>A, XM_006715806.3:c.877C>A, XM_006715806.2:c.877C>A, XM_006715806.1:c.877C>A, NM_001011553.4:c.874C>A, NM_001011553.3:c.874C>A, XM_011515656.3:c.877C>A, XM_011515656.2:c.877C>A, XM_011515656.1:c.877C>A, XM_011515661.3:c.877C>A, XM_011515661.2:c.877C>A, XM_011515661.1:c.877C>A, NM_001363715.2:c.718C>A, NM_001363715.1:c.718C>A, XM_047421097.1:c.718C>A, XM_047421095.1:c.874C>A, NM_001242956.1:c.769C>A, XM_047421096.1:c.787C>A, NM_001375299.1:c.718C>A, NP_001779.3:p.His293Asn, XP_006715869.1:p.His293Asn, NP_001011553.2:p.His292Asn, XP_011513958.1:p.His293Asn, XP_011513963.1:p.His293Asn, NP_001350644.1:p.His240Asn, XP_047277053.1:p.His240Asn, XP_047277051.1:p.His292Asn, NP_001229885.1:p.His257Asn, XP_047277052.1:p.His263Asn, NP_001362228.1:p.His240Asn

Select item 146828853516.

rs1468288535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:35801243 (GRCh38)
7:35840853 (GRCh37)
Canonical SPDI:: NC_000007.14:35801242:G:A,NC_000007.14:35801242:G:C,NC_000007.14:35801242:G:T
Gene:: SEPTIN7 (Varview), SEPTIN7-DT (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.35801243G>A, NC_000007.14:g.35801243G>C, NC_000007.14:g.35801243G>T, NC_000007.13:g.35840853G>A, NC_000007.13:g.35840853G>C, NC_000007.13:g.35840853G>T, NM_001788.6:c.34G>A, NM_001788.6:c.34G>C, NM_001788.6:c.34G>T, NM_001788.5:c.34G>A, NM_001788.5:c.34G>C, NM_001788.5:c.34G>T, XM_006715806.4:c.34G>A, XM_006715806.4:c.34G>C, XM_006715806.4:c.34G>T, XM_006715806.3:c.34G>A, XM_006715806.3:c.34G>C, XM_006715806.3:c.34G>T, XM_006715806.2:c.34G>A, XM_006715806.2:c.34G>C, XM_006715806.2:c.34G>T, XM_006715806.1:c.34G>A, XM_006715806.1:c.34G>C, XM_006715806.1:c.34G>T, NM_001011553.4:c.34G>A, NM_001011553.4:c.34G>C, NM_001011553.4:c.34G>T, NM_001011553.3:c.34G>A, NM_001011553.3:c.34G>C, NM_001011553.3:c.34G>T, XM_011515656.3:c.34G>A, XM_011515656.3:c.34G>C, XM_011515656.3:c.34G>T, XM_011515656.2:c.34G>A, XM_011515656.2:c.34G>C, XM_011515656.2:c.34G>T, XM_011515656.1:c.34G>A, XM_011515656.1:c.34G>C, XM_011515656.1:c.34G>T, XM_011515661.3:c.34G>A, XM_011515661.3:c.34G>C, XM_011515661.3:c.34G>T, XM_011515661.2:c.34G>A, XM_011515661.2:c.34G>C, XM_011515661.2:c.34G>T, XM_011515661.1:c.34G>A, XM_011515661.1:c.34G>C, XM_011515661.1:c.34G>T, NM_001363715.2:c.-664G>A, NM_001363715.2:c.-664G>C, NM_001363715.2:c.-664G>T, NM_001363715.1:c.-664G>A, NM_001363715.1:c.-664G>C, NM_001363715.1:c.-664G>T, XM_047421097.1:c.-121G>A, XM_047421097.1:c.-121G>C, XM_047421097.1:c.-121G>T, XM_047421095.1:c.34G>A, XM_047421095.1:c.34G>C, XM_047421095.1:c.34G>T, NM_001242956.1:c.34G>A, NM_001242956.1:c.34G>C, NM_001242956.1:c.34G>T, NM_001375299.1:c.-121G>A, NM_001375299.1:c.-121G>C, NM_001375299.1:c.-121G>T, NP_001779.3:p.Glu12Lys, NP_001779.3:p.Glu12Gln, NP_001779.3:p.Glu12Ter, XP_006715869.1:p.Glu12Lys, XP_006715869.1:p.Glu12Gln, XP_006715869.1:p.Glu12Ter, NP_001011553.2:p.Glu12Lys, NP_001011553.2:p.Glu12Gln, NP_001011553.2:p.Glu12Ter, XP_011513958.1:p.Glu12Lys, XP_011513958.1:p.Glu12Gln, XP_011513958.1:p.Glu12Ter, XP_011513963.1:p.Glu12Lys, XP_011513963.1:p.Glu12Gln, XP_011513963.1:p.Glu12Ter, XP_047277051.1:p.Glu12Lys, XP_047277051.1:p.Glu12Gln, XP_047277051.1:p.Glu12Ter, NP_001229885.1:p.Glu12Lys, NP_001229885.1:p.Glu12Gln, NP_001229885.1:p.Glu12Ter

Select item 146644775417.

rs1466447754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:35873661 (GRCh38)
7:35913271 (GRCh37)
Canonical SPDI:: NC_000007.14:35873660:A:G
Gene:: SEPTIN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.35873661A>G, NC_000007.13:g.35913271A>G, NM_001788.6:c.398A>G, NM_001788.5:c.398A>G, XM_006715806.4:c.398A>G, XM_006715806.3:c.398A>G, XM_006715806.2:c.398A>G, XM_006715806.1:c.398A>G, NM_001011553.4:c.395A>G, NM_001011553.3:c.395A>G, XM_011515656.3:c.398A>G, XM_011515656.2:c.398A>G, XM_011515656.1:c.398A>G, XM_011515661.3:c.398A>G, XM_011515661.2:c.398A>G, XM_011515661.1:c.398A>G, NM_001363715.2:c.239A>G, NM_001363715.1:c.239A>G, XM_047421097.1:c.239A>G, XM_047421095.1:c.395A>G, NM_001242956.1:c.290A>G, XM_047421096.1:c.308A>G, NM_001375299.1:c.239A>G, NP_001779.3:p.Tyr133Cys, XP_006715869.1:p.Tyr133Cys, NP_001011553.2:p.Tyr132Cys, XP_011513958.1:p.Tyr133Cys, XP_011513963.1:p.Tyr133Cys, NP_001350644.1:p.Tyr80Cys, XP_047277053.1:p.Tyr80Cys, XP_047277051.1:p.Tyr132Cys, NP_001229885.1:p.Tyr97Cys, XP_047277052.1:p.Tyr103Cys, NP_001362228.1:p.Tyr80Cys

Select item 146366387818.

rs1463663878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:35863573 (GRCh38)
7:35903183 (GRCh37)
Canonical SPDI:: NC_000007.14:35863572:C:T
Gene:: SEPTIN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.35863573C>T, NC_000007.13:g.35903183C>T, NM_001788.6:c.191C>T, NM_001788.5:c.191C>T, XM_006715806.4:c.191C>T, XM_006715806.3:c.191C>T, XM_006715806.2:c.191C>T, XM_006715806.1:c.191C>T, NM_001011553.4:c.188C>T, NM_001011553.3:c.188C>T, XM_011515656.3:c.191C>T, XM_011515656.2:c.191C>T, XM_011515656.1:c.191C>T, XM_011515661.3:c.191C>T, XM_011515661.2:c.191C>T, XM_011515661.1:c.191C>T, NM_001363715.2:c.32C>T, NM_001363715.1:c.32C>T, XM_047421097.1:c.32C>T, XM_047421095.1:c.188C>T, NM_001242956.1:c.83C>T, XM_047421096.1:c.101C>T, NM_001375299.1:c.32C>T, NP_001779.3:p.Ser64Leu, XP_006715869.1:p.Ser64Leu, NP_001011553.2:p.Ser63Leu, XP_011513958.1:p.Ser64Leu, XP_011513963.1:p.Ser64Leu, NP_001350644.1:p.Ser11Leu, XP_047277053.1:p.Ser11Leu, XP_047277051.1:p.Ser63Leu, NP_001229885.1:p.Ser28Leu, XP_047277052.1:p.Ser34Leu, NP_001362228.1:p.Ser11Leu

Select item 145916229319.

rs1459162293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:35872700 (GRCh38)
7:35912310 (GRCh37)
Canonical SPDI:: NC_000007.14:35872699:G:T
Gene:: SEPTIN7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.35872700G>T, NC_000007.13:g.35912310G>T, NM_001788.6:c.311G>T, NM_001788.5:c.311G>T, XM_006715806.4:c.311G>T, XM_006715806.3:c.311G>T, XM_006715806.2:c.311G>T, XM_006715806.1:c.311G>T, NM_001011553.4:c.308G>T, NM_001011553.3:c.308G>T, XM_011515656.3:c.311G>T, XM_011515656.2:c.311G>T, XM_011515656.1:c.311G>T, XM_011515661.3:c.311G>T, XM_011515661.2:c.311G>T, XM_011515661.1:c.311G>T, NM_001363715.2:c.152G>T, NM_001363715.1:c.152G>T, XM_047421097.1:c.152G>T, XM_047421095.1:c.308G>T, NM_001242956.1:c.203G>T, XM_047421096.1:c.221G>T, NM_001375299.1:c.152G>T, NP_001779.3:p.Gly104Val, XP_006715869.1:p.Gly104Val, NP_001011553.2:p.Gly103Val, XP_011513958.1:p.Gly104Val, XP_011513963.1:p.Gly104Val, NP_001350644.1:p.Gly51Val, XP_047277053.1:p.Gly51Val, XP_047277051.1:p.Gly103Val, NP_001229885.1:p.Gly68Val, XP_047277052.1:p.Gly74Val, NP_001362228.1:p.Gly51Val

Select item 145176300820.

rs1451763008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:35872723 (GRCh38)
7:35912333 (GRCh37)
Canonical SPDI:: NC_000007.14:35872722:G:A
Gene:: SEPTIN7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.35872723G>A, NC_000007.13:g.35912333G>A, NM_001788.6:c.334G>A, NM_001788.5:c.334G>A, XM_006715806.4:c.334G>A, XM_006715806.3:c.334G>A, XM_006715806.2:c.334G>A, XM_006715806.1:c.334G>A, NM_001011553.4:c.331G>A, NM_001011553.3:c.331G>A, XM_011515656.3:c.334G>A, XM_011515656.2:c.334G>A, XM_011515656.1:c.334G>A, XM_011515661.3:c.334G>A, XM_011515661.2:c.334G>A, XM_011515661.1:c.334G>A, NM_001363715.2:c.175G>A, NM_001363715.1:c.175G>A, XM_047421097.1:c.175G>A, XM_047421095.1:c.331G>A, NM_001242956.1:c.226G>A, XM_047421096.1:c.244G>A, NM_001375299.1:c.175G>A, NP_001779.3:p.Val112Ile, XP_006715869.1:p.Val112Ile, NP_001011553.2:p.Val111Ile, XP_011513958.1:p.Val112Ile, XP_011513963.1:p.Val112Ile, NP_001350644.1:p.Val59Ile, XP_047277053.1:p.Val59Ile, XP_047277051.1:p.Val111Ile, NP_001229885.1:p.Val76Ile, XP_047277052.1:p.Val82Ile, NP_001362228.1:p.Val59Ile

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Result Filters

Clinical Significance

Validation Status

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 277

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