Canonical Allele Identifier: CA833583516

Gene:

Linked Data

• dbSNP Id: rs1282858354
• gnomAD v3: 7-13400691-T-C
• gnomAD v4: 7-13400691-T-C
• MyVariant Identifiers: chr7:g.13440316T>C (hg19) ; chr7:g.13400691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13400691T>C , CM000669.2:g.13400691T>C	GRCh38
NC_000007.13:g.13440316T>C , CM000669.1:g.13440316T>C	GRCh37
NC_000007.12:g.13406841T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745097.1:n.147+90368T>C