Canonical Allele Identifier: CA422484889

Gene:

Linked Data

• dbSNP Id: rs935405180
• gnomAD v4: 1-192800693-C-G
• MyVariant Identifiers: chr1:g.192769823C>G (hg19) ; chr1:g.192800693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800693C>G , CM000663.2:g.192800693C>G	GRCh38
NC_000001.10:g.192769823C>G , CM000663.1:g.192769823C>G	GRCh37
NC_000001.9:g.191036446C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.123C>G