Canonical Allele Identifier: CA18888258

Gene:

Linked Data

• dbSNP Id: rs375567748
• gnomAD v2: 1-20201018-T-A
• gnomAD v3: 1-19874525-T-A
• gnomAD v4: 1-19874525-T-A
• MyVariant Identifiers: chr1:g.20201018T>A (hg19) ; chr1:g.19874525T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19874525T>A , CM000663.2:g.19874525T>A	GRCh38
NC_000001.10:g.20201018T>A , CM000663.1:g.20201018T>A	GRCh37
NC_000001.9:g.20073605T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947027.1:n.266-8773A>T
XR_947028.1:n.266-8773A>T
XR_947027.2:n.167-8773A>T
XR_947028.2:n.167-8773A>T