Canonical Allele Identifier: CA422484947

Gene:

Linked Data

• gnomAD v4: 1-192800712-A-C
• MyVariant Identifiers: chr1:g.192769842A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800712A>C , CM000663.2:g.192800712A>C	GRCh38
NC_000001.10:g.192769842A>C , CM000663.1:g.192769842A>C	GRCh37
NC_000001.9:g.191036465A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000429211.2:n.142A>C