Canonical Allele Identifier: CA456817286

Gene:

Linked Data

• dbSNP Id: rs1403649406
• gnomAD v2: 7-97017656-C-A
• gnomAD v3: 7-97388344-C-A
• gnomAD v4: 7-97388344-C-A
• MyVariant Identifiers: chr7:g.97017656C>A (hg19) ; chr7:g.97388344C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97388344C>A , CM000669.2:g.97388344C>A	GRCh38
NC_000007.13:g.97017656C>A , CM000669.1:g.97017656C>A	GRCh37
NC_000007.12:g.96855592C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745293.1:n.127-59697G>T