Canonical Allele Identifier: CA576613586

Gene:

Linked Data

• dbSNP Id: rs574872920
• gnomAD v2: 7-97017905-G-C
• gnomAD v3: 7-97388593-G-C
• gnomAD v4: 7-97388593-G-C
• MyVariant Identifiers: chr7:g.97017905G>C (hg19) ; chr7:g.97388593G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97388593G>C , CM000669.2:g.97388593G>C	GRCh38
NC_000007.13:g.97017905G>C , CM000669.1:g.97017905G>C	GRCh37
NC_000007.12:g.96855841G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745293.1:n.127-59946C>G