Canonical Allele Identifier: CA163625041

Gene:

Linked Data

• dbSNP Id: rs546871857
• gnomAD v2: 7-97017784-C-G
• gnomAD v3: 7-97388472-C-G
• gnomAD v4: 7-97388472-C-G
• MyVariant Identifiers: chr7:g.97017784C>G (hg19) ; chr7:g.97388472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97388472C>G , CM000669.2:g.97388472C>G	GRCh38
NC_000007.13:g.97017784C>G , CM000669.1:g.97017784C>G	GRCh37
NC_000007.12:g.96855720C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745293.1:n.127-59825G>C