Canonical Allele Identifier: CA35069276

Gene:

Linked Data

• dbSNP Id: rs923090390
• gnomAD v2: 1-192769872-C-A
• gnomAD v3: 1-192800742-C-A
• gnomAD v4: 1-192800742-C-A
• MyVariant Identifiers: chr1:g.192769872C>A (hg19) ; chr1:g.192800742C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800742C>A , CM000663.2:g.192800742C>A	GRCh38
NC_000001.10:g.192769872C>A , CM000663.1:g.192769872C>A	GRCh37
NC_000001.9:g.191036495C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.172C>A