SNP Links for Protein (Select 156139155) - SNP

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Links from Protein

Items: 1 to 20 of 345

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Select item 14843674081.

rs1484367408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:80458844 (GRCh38)
7:80088160 (GRCh37)
Canonical SPDI:: NC_000007.14:80458843:C:T
Gene:: GNAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.80458844C>T, NC_000007.13:g.80088160C>T, NM_001102386.3:c.892G>A, NM_001102386.2:c.892G>A, NM_001102386.1:c.892G>A, NP_001095856.1:p.Asp298Asn

Select item 14838188622.

rs1483818862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:80458785 (GRCh38)
7:80088101 (GRCh37)
Canonical SPDI:: NC_000007.14:80458784:C:T
Gene:: GNAT3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.80458785C>T, NC_000007.13:g.80088101C>T, NM_001102386.3:c.951G>A, NM_001102386.2:c.951G>A, NM_001102386.1:c.951G>A

Select item 14831151993.

rs1483115199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:80511903 (GRCh38)
7:80141219 (GRCh37)
Canonical SPDI:: NC_000007.14:80511902:C:G
Gene:: GNAT3 (Varview), LOC107986812 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.80511903C>G, NC_000007.13:g.80141219C>G, NM_001102386.3:c.24G>C, NM_001102386.2:c.24G>C, NM_001102386.1:c.24G>C, NP_001095856.1:p.Glu8Asp

Select item 14818526854.

rs1481852685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:80474296 (GRCh38)
7:80103612 (GRCh37)
Canonical SPDI:: NC_000007.14:80474295:G:A
Gene:: GNAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.80474296G>A, NC_000007.13:g.80103612G>A, NM_001102386.3:c.545C>T, NM_001102386.2:c.545C>T, NM_001102386.1:c.545C>T, NP_001095856.1:p.Thr182Ile

Select item 14804454315.

rs1480445431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:80458795 (GRCh38)
7:80088111 (GRCh37)
Canonical SPDI:: NC_000007.14:80458794:T:C,NC_000007.14:80458794:T:G
Gene:: GNAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.80458795T>C, NC_000007.14:g.80458795T>G, NC_000007.13:g.80088111T>C, NC_000007.13:g.80088111T>G, NM_001102386.3:c.941A>G, NM_001102386.3:c.941A>C, NM_001102386.2:c.941A>G, NM_001102386.2:c.941A>C, NM_001102386.1:c.941A>G, NM_001102386.1:c.941A>C, NP_001095856.1:p.Lys314Arg, NP_001095856.1:p.Lys314Thr

Select item 14803858886.

rs1480385888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:80478921 (GRCh38)
7:80108237 (GRCh37)
Canonical SPDI:: NC_000007.14:80478920:T:C
Gene:: GNAT3 (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.80478921T>C, NC_000007.13:g.80108237T>C, NG_074281.1:g.249T>C, NM_001102386.3:c.381A>G, NM_001102386.2:c.381A>G, NM_001102386.1:c.381A>G, NP_001095856.1:p.Ile127Met

Select item 14794851627.

rs1479485162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:80458711 (GRCh38)
7:80088027 (GRCh37)
Canonical SPDI:: NC_000007.14:80458710:A:G
Gene:: GNAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.80458711A>G, NC_000007.13:g.80088027A>G, NM_001102386.3:c.1025T>C, NM_001102386.2:c.1025T>C, NM_001102386.1:c.1025T>C, NP_001095856.1:p.Ile342Thr

Select item 14769811828.

rs1476981182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:80462623 (GRCh38)
7:80091939 (GRCh37)
Canonical SPDI:: NC_000007.14:80462622:T:C
Gene:: GNAT3 (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.80462623T>C, NC_000007.13:g.80091939T>C, NM_001102386.3:c.599A>G, NM_001102386.2:c.599A>G, NM_001102386.1:c.599A>G, NP_001095856.1:p.Asp200Gly

Select item 14769686829.

rs1476968682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:80488575 (GRCh38)
7:80117891 (GRCh37)
Canonical SPDI:: NC_000007.14:80488574:A:C
Gene:: GNAT3 (Varview), LOC107986812 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.80488575A>C, NC_000007.13:g.80117891A>C, NM_001102386.3:c.263T>G, NM_001102386.2:c.263T>G, NM_001102386.1:c.263T>G, NP_001095856.1:p.Met88Arg

Select item 147388169310.

rs1473881693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:80462226 (GRCh38)
7:80091542 (GRCh37)
Canonical SPDI:: NC_000007.14:80462225:G:A
Gene:: GNAT3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.80462226G>A, NC_000007.13:g.80091542G>A, NM_001102386.3:c.807C>T, NM_001102386.2:c.807C>T, NM_001102386.1:c.807C>T

Select item 147192887111.

rs1471928871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:80478866 (GRCh38)
7:80108182 (GRCh37)
Canonical SPDI:: NC_000007.14:80478865:A:G
Gene:: GNAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.80478866A>G, NC_000007.13:g.80108182A>G, NG_074281.1:g.194A>G, NM_001102386.3:c.436T>C, NM_001102386.2:c.436T>C, NM_001102386.1:c.436T>C, NP_001095856.1:p.Tyr146His

Select item 147187829912.

rs1471878299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:80511896 (GRCh38)
7:80141212 (GRCh37)
Canonical SPDI:: NC_000007.14:80511895:C:A
Gene:: GNAT3 (Varview), LOC107986812 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
HGVS:: NC_000007.14:g.80511896C>A, NC_000007.13:g.80141212C>A, NM_001102386.3:c.31G>T, NM_001102386.2:c.31G>T, NM_001102386.1:c.31G>T, NP_001095856.1:p.Glu11Ter

Select item 146673376313.

rs1466733763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:80494625 (GRCh38)
7:80123941 (GRCh37)
Canonical SPDI:: NC_000007.14:80494624:A:G
Gene:: GNAT3 (Varview), LOC107986812 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.80494625A>G, NC_000007.13:g.80123941A>G, NM_001102386.3:c.141T>C, NM_001102386.2:c.141T>C, NM_001102386.1:c.141T>C

Select item 146478900414.

rs1464789004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:80462208 (GRCh38)
7:80091524 (GRCh37)
Canonical SPDI:: NC_000007.14:80462207:T:G
Gene:: GNAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.80462208T>G, NC_000007.13:g.80091524T>G, NM_001102386.3:c.825A>C, NM_001102386.2:c.825A>C, NM_001102386.1:c.825A>C, NP_001095856.1:p.Gln275His

Select item 146474295215.

rs1464742952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:80478856 (GRCh38)
7:80108172 (GRCh37)
Canonical SPDI:: NC_000007.14:80478855:T:C
Gene:: GNAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.80478856T>C, NC_000007.13:g.80108172T>C, NG_074281.1:g.184T>C, NM_001102386.3:c.446A>G, NM_001102386.2:c.446A>G, NM_001102386.1:c.446A>G, NP_001095856.1:p.Asn149Ser

Select item 146467580716.

rs1464675807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:80511890 (GRCh38)
7:80141206 (GRCh37)
Canonical SPDI:: NC_000007.14:80511889:C:T
Gene:: GNAT3 (Varview), LOC107986812 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000024/6 (GnomAD_exomes)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.80511890C>T, NC_000007.13:g.80141206C>T, NM_001102386.3:c.37G>A, NM_001102386.2:c.37G>A, NM_001102386.1:c.37G>A, NP_001095856.1:p.Ala13Thr

Select item 146413412017.

rs1464134120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:80478887 (GRCh38)
7:80108203 (GRCh37)
Canonical SPDI:: NC_000007.14:80478886:A:G
Gene:: GNAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.80478887A>G, NC_000007.13:g.80108203A>G, NG_074281.1:g.215A>G, NM_001102386.3:c.415T>C, NM_001102386.2:c.415T>C, NM_001102386.1:c.415T>C, NP_001095856.1:p.Cys139Arg

Select item 146162283218.

rs1461622832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:80474363 (GRCh38)
7:80103679 (GRCh37)
Canonical SPDI:: NC_000007.14:80474362:C:G
Gene:: GNAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.80474363C>G, NC_000007.13:g.80103679C>G, NM_001102386.3:c.478G>C, NM_001102386.2:c.478G>C, NM_001102386.1:c.478G>C, NP_001095856.1:p.Asp160His

Select item 145767398019.

rs1457673980 [Homo sapiens]

Variant type:: DEL
Alleles:: GCC>- [Show Flanks]
Chromosome:: 7:80478889 (GRCh38)
7:80108205 (GRCh37)
Canonical SPDI:: NC_000007.14:80478888:GCC:
Gene:: GNAT3 (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.80478889_80478891del, NC_000007.13:g.80108205_80108207del, NG_074281.1:g.217_219del, NM_001102386.3:c.411_413del, NM_001102386.2:c.411_413del, NM_001102386.1:c.411_413del, NP_001095856.1:p.Gln137_Ala138delinsHis

Select item 145536994820.

rs1455369948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:80488552 (GRCh38)
7:80117868 (GRCh37)
Canonical SPDI:: NC_000007.14:80488551:C:G
Gene:: GNAT3 (Varview), LOC107986812 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.80488552C>G, NC_000007.13:g.80117868C>G, NM_001102386.3:c.286G>C, NM_001102386.2:c.286G>C, NM_001102386.1:c.286G>C, NP_001095856.1:p.Val96Leu

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