Canonical Allele Identifier: CA890857340

Gene:

Linked Data

• dbSNP Id: rs1414749312
• gnomAD v3: 1-168649539-G-A
• gnomAD v4: 1-168649539-G-A
• MyVariant Identifiers: chr1:g.168618777G>A (hg19) ; chr1:g.168649539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649539G>A , CM000663.2:g.168649539G>A	GRCh38
NC_000001.10:g.168618777G>A , CM000663.1:g.168618777G>A	GRCh37
NC_000001.9:g.166885401G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8264C>T
XR_922259.2:n.332-8264C>T