Canonical Allele Identifier: CA31701919

Gene:

Linked Data

• dbSNP Id: rs978443535
• gnomAD v3: 1-168649562-A-G
• gnomAD v4: 1-168649562-A-G
• MyVariant Identifiers: chr1:g.168618800A>G (hg19) ; chr1:g.168649562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649562A>G , CM000663.2:g.168649562A>G	GRCh38
NC_000001.10:g.168618800A>G , CM000663.1:g.168618800A>G	GRCh37
NC_000001.9:g.166885424A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8287T>C
XR_922259.2:n.332-8287T>C