Canonical Allele Identifier: CA422484460

Gene:

Linked Data

• dbSNP Id: rs1665422390
• gnomAD v3: 1-192800610-T-A
• gnomAD v4: 1-192800610-T-A
• MyVariant Identifiers: chr1:g.192769740T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800610T>A , CM000663.2:g.192800610T>A	GRCh38
NC_000001.10:g.192769740T>A , CM000663.1:g.192769740T>A	GRCh37
NC_000001.9:g.191036363T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.40T>A