Canonical Allele Identifier: CA526771946

Gene:

Linked Data

• dbSNP Id: rs1441340138
• gnomAD v2: 1-168618760-T-A
• MyVariant Identifiers: chr1:g.168618760T>A (hg19) ; chr1:g.168649522T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649522T>A , CM000663.2:g.168649522T>A	GRCh38
NC_000001.10:g.168618760T>A , CM000663.1:g.168618760T>A	GRCh37
NC_000001.9:g.166885384T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8247A>T
XR_922259.2:n.332-8247A>T