Canonical Allele Identifier: CA31701893

Gene:

Linked Data

• dbSNP Id: rs541493651
• gnomAD v3: 1-168649513-G-A
• gnomAD v4: 1-168649513-G-A
• MyVariant Identifiers: chr1:g.168618751G>A (hg19) ; chr1:g.168649513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649513G>A , CM000663.2:g.168649513G>A	GRCh38
NC_000001.10:g.168618751G>A , CM000663.1:g.168618751G>A	GRCh37
NC_000001.9:g.166885375G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8238C>T
XR_922259.2:n.332-8238C>T