Canonical Allele Identifier: CA575244616

Gene:

Linked Data

• dbSNP Id: rs1435606130
• gnomAD v2: 7-68611898-T-C
• gnomAD v3: 7-69146911-T-C
• gnomAD v4: 7-69146911-T-C
• MyVariant Identifiers: chr7:g.68611898T>C (hg19) ; chr7:g.69146911T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69146911T>C , CM000669.2:g.69146911T>C	GRCh38
NC_000007.13:g.68611898T>C , CM000669.1:g.68611898T>C	GRCh37
NC_000007.12:g.68249834T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_927647.1:n.88-785A>G