Canonical Allele Identifier: CA841571739

Gene:

Linked Data

• dbSNP Id: rs1312458234
• gnomAD v3: 7-69147055-T-C
• gnomAD v4: 7-69147055-T-C
• MyVariant Identifiers: chr7:g.68612042T>C (hg19) ; chr7:g.69147055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69147055T>C , CM000669.2:g.69147055T>C	GRCh38
NC_000007.13:g.68612042T>C , CM000669.1:g.68612042T>C	GRCh37
NC_000007.12:g.68249978T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_927647.1:n.88-929A>G