Canonical Allele Identifier: CA422484529

Gene:

Linked Data

• gnomAD v4: 1-192800622-C-T
• MyVariant Identifiers: chr1:g.192769752C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800622C>T , CM000663.2:g.192800622C>T	GRCh38
NC_000001.10:g.192769752C>T , CM000663.1:g.192769752C>T	GRCh37
NC_000001.9:g.191036375C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.52C>T