Allele Registry

Canonical Allele Identifier: CA13028859

Gene:

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr9:g.33799372T>C

GRCh37 chr9:g.33799370T>C

Linked Data - Sequence & Population

gnomAD v2:

9:33799370 T / C

gnomAD v3:

9:33799372 T / C

gnomAD v4:

chr9-33799372-T-C

Joint Max Group AF 0.76104477 (EAS)

Genomes Max Group AF 0.72155994 (EAS)

Exomes Max Group AF 0.76506477 (EAS)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001654277

ClinVar Variation:

1246185

dbSNP:

216345

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33799372T>C , CM000671.2:g.33799372T>C	GRCh38
NC_000009.11:g.33799370T>C , CM000671.1:g.33799370T>C	GRCh37
NC_000009.10:g.33789370T>C	NCBI36
NG_029635.1:g.53907T>C

Transcript Alleles

HGVS	Amino-acid Change
NR_170201.1:n.369+415A>G
NR_170202.1:n.373+411A>G
NR_170203.1:n.369+415A>G
NR_170204.1:n.373+411A>G
NR_170205.1:n.369+415A>G
NR_170206.1:n.369+415A>G
NR_170207.1:n.373+411A>G
NR_170208.1:n.373+411A>G
NR_170209.1:n.369+415A>G
NR_170210.1:n.369+415A>G
NR_170211.1:n.369+415A>G
NR_170212.1:n.369+415A>G
NR_170213.1:n.369+415A>G
NR_170215.1:n.272+415A>G
NR_170216.1:n.369+415A>G

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