Canonical Allele Identifier: CA15344298

Gene:

Linked Data

• dbSNP Id: rs9307551
• gnomAD v2: 4-80530671-A-C
• gnomAD v3: 4-79609517-A-C
• gnomAD v4: 4-79609517-A-C
• MyVariant Identifiers: chr4:g.80530671A>C (hg19) ; chr4:g.79609517A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.79609517A>C , CM000666.2:g.79609517A>C	GRCh38
NC_000004.11:g.80530671A>C , CM000666.1:g.80530671A>C	GRCh37
NC_000004.10:g.80749695A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001741747.1:n.629-1552A>C