Canonical Allele Identifier: CA890857293

Gene:

Linked Data

• dbSNP Id: rs1209382655
• gnomAD v3: 1-168649467-G-T
• gnomAD v4: 1-168649467-G-T
• MyVariant Identifiers: chr1:g.168618705G>T (hg19) ; chr1:g.168649467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649467G>T , CM000663.2:g.168649467G>T	GRCh38
NC_000001.10:g.168618705G>T , CM000663.1:g.168618705G>T	GRCh37
NC_000001.9:g.166885329G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8192C>A
XR_922259.2:n.332-8192C>A