Canonical Allele Identifier: CA844313434

Gene:

Linked Data

• dbSNP Id: rs1346587316
• gnomAD v3: 7-97388495-C-T
• gnomAD v4: 7-97388495-C-T
• MyVariant Identifiers: chr7:g.97017807C>T (hg19) ; chr7:g.97388495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97388495C>T , CM000669.2:g.97388495C>T	GRCh38
NC_000007.13:g.97017807C>T , CM000669.1:g.97017807C>T	GRCh37
NC_000007.12:g.96855743C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745293.1:n.127-59848G>A