Canonical Allele Identifier: CA891253229

Gene:

Linked Data

• dbSNP Id: rs1288884799
• gnomAD v3: 1-172741901-G-C
• gnomAD v4: 1-172741901-G-C
• MyVariant Identifiers: chr1:g.172711041G>C (hg19) ; chr1:g.172741901G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.172741901G>C , CM000663.2:g.172741901G>C	GRCh38
NC_000001.10:g.172711041G>C , CM000663.1:g.172711041G>C	GRCh37
NC_000001.9:g.170977664G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922289.1:n.27-33918G>C