Canonical Allele Identifier: CA35069263

Gene:

Linked Data

• dbSNP Id: rs1026228292
• gnomAD v2: 1-192769739-G-A
• gnomAD v3: 1-192800609-G-A
• gnomAD v4: 1-192800609-G-A
• MyVariant Identifiers: chr1:g.192769739G>A (hg19) ; chr1:g.192800609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800609G>A , CM000663.2:g.192800609G>A	GRCh38
NC_000001.10:g.192769739G>A , CM000663.1:g.192769739G>A	GRCh37
NC_000001.9:g.191036362G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.39G>A