Canonical Allele Identifier: CA687013233

Gene:

Linked Data

• dbSNP Id: rs946918811
• gnomAD v3: 12-28045298-A-C
• gnomAD v4: 12-28045298-A-C
• MyVariant Identifiers: chr12:g.28198231A>C (hg19) ; chr12:g.28045298A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045298A>C , CM000674.2:g.28045298A>C	GRCh38
NC_000012.11:g.28198231A>C , CM000674.1:g.28198231A>C	GRCh37
NC_000012.10:g.28089498A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_931460.1:n.154-6340T>G