Canonical Allele Identifier: CA575244619

Gene:

Linked Data

• dbSNP Id: rs1300666302
• gnomAD v2: 7-68611925-C-T
• gnomAD v3: 7-69146938-C-T
• gnomAD v4: 7-69146938-C-T
• COSMIC: COSN17794414
• MyVariant Identifiers: chr7:g.68611925C>T (hg19) ; chr7:g.69146938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69146938C>T , CM000669.2:g.69146938C>T	GRCh38
NC_000007.13:g.68611925C>T , CM000669.1:g.68611925C>T	GRCh37
NC_000007.12:g.68249861C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_927647.1:n.88-812G>A