Canonical Allele Identifier: CA891253178

Gene:

Linked Data

• dbSNP Id: rs1318921855
• gnomAD v3: 1-172741861-T-C
• gnomAD v4: 1-172741861-T-C
• MyVariant Identifiers: chr1:g.172711001T>C (hg19) ; chr1:g.172741861T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.172741861T>C , CM000663.2:g.172741861T>C	GRCh38
NC_000001.10:g.172711001T>C , CM000663.1:g.172711001T>C	GRCh37
NC_000001.9:g.170977624T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922289.1:n.27-33958T>C