Canonical Allele Identifier: CA89976943

Gene:

Linked Data

• dbSNP Id: rs143462748
• gnomAD v2: 3-187649319-A-G
• gnomAD v3: 3-187931531-A-G
• gnomAD v4: 3-187931531-A-G
• MyVariant Identifiers: chr3:g.187649319A>G (hg19) ; chr3:g.187931531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187931531A>G , CM000665.2:g.187931531A>G	GRCh38
NC_000003.11:g.187649319A>G , CM000665.1:g.187649319A>G	GRCh37
NC_000003.10:g.189132013A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_924814.1:n.1383T>C