Canonical Allele Identifier: CA575244624

Gene:

Linked Data

• dbSNP Id: rs1244194614
• gnomAD v2: 7-68611999-A-G
• gnomAD v3: 7-69147012-A-G
• gnomAD v4: 7-69147012-A-G
• MyVariant Identifiers: chr7:g.68611999A>G (hg19) ; chr7:g.69147012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69147012A>G , CM000669.2:g.69147012A>G	GRCh38
NC_000007.13:g.68611999A>G , CM000669.1:g.68611999A>G	GRCh37
NC_000007.12:g.68249935A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_927647.1:n.88-886T>C