Canonical Allele Identifier: CA77246680

Gene:

Linked Data

• dbSNP Id: rs903750073
• gnomAD v3: 3-72266861-C-T
• gnomAD v4: 3-72266861-C-T
• COSMIC: COSN16093481
• MyVariant Identifiers: chr3:g.72316012C>T (hg19) ; chr3:g.72266861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.72266861C>T , CM000665.2:g.72266861C>T	GRCh38
NC_000003.11:g.72316012C>T , CM000665.1:g.72316012C>T	GRCh37
NC_000003.10:g.72398702C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940958.1:n.835+8247G>A