Canonical Allele Identifier: CA422484457

Gene:

Linked Data

• gnomAD v4: 1-192800609-G-C
• MyVariant Identifiers: chr1:g.192769739G>C (hg19)

Genomic Alleles

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

Transcript Alleles

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