Canonical Allele Identifier: CA77246659

Gene:

Linked Data

• dbSNP Id: rs550649415
• gnomAD v2: 3-72315874-G-A
• gnomAD v3: 3-72266723-G-A
• gnomAD v4: 3-72266723-G-A
• MyVariant Identifiers: chr3:g.72315874G>A (hg19) ; chr3:g.72266723G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.72266723G>A , CM000665.2:g.72266723G>A	GRCh38
NC_000003.11:g.72315874G>A , CM000665.1:g.72315874G>A	GRCh37
NC_000003.10:g.72398564G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940958.1:n.835+8385C>T