Canonical Allele Identifier: CA422484912

Gene:

Linked Data

• gnomAD v4: 1-192800700-C-T
• MyVariant Identifiers: chr1:g.192769830C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800700C>T , CM000663.2:g.192800700C>T	GRCh38
NC_000001.10:g.192769830C>T , CM000663.1:g.192769830C>T	GRCh37
NC_000001.9:g.191036453C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.130C>T