Canonical Allele Identifier: CA910080434

Gene:

Linked Data

• dbSNP Id: rs1240905015
• gnomAD v3: 3-72266819-A-C
• gnomAD v4: 3-72266819-A-C
• MyVariant Identifiers: chr3:g.72315970A>C (hg19) ; chr3:g.72266819A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.72266819A>C , CM000665.2:g.72266819A>C	GRCh38
NC_000003.11:g.72315970A>C , CM000665.1:g.72315970A>C	GRCh37
NC_000003.10:g.72398660A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940958.1:n.835+8289T>G