Canonical Allele Identifier: CA31701850

Gene:

Linked Data

• dbSNP Id: rs949672798
• gnomAD v3: 1-168649479-A-G
• gnomAD v4: 1-168649479-A-G
• MyVariant Identifiers: chr1:g.168618717A>G (hg19) ; chr1:g.168649479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649479A>G , CM000663.2:g.168649479A>G	GRCh38
NC_000001.10:g.168618717A>G , CM000663.1:g.168618717A>G	GRCh37
NC_000001.9:g.166885341A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8204T>C
XR_922259.2:n.332-8204T>C