Canonical Allele Identifier: CA422484950

Gene:

Linked Data

• gnomAD v4: 1-192800713-G-T
• MyVariant Identifiers: chr1:g.192769843G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800713G>T , CM000663.2:g.192800713G>T	GRCh38
NC_000001.10:g.192769843G>T , CM000663.1:g.192769843G>T	GRCh37
NC_000001.9:g.191036466G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000429211.2:n.143G>T