Canonical Allele Identifier: CA36798881

Gene:

Linked Data

• dbSNP Id: rs551099230
• gnomAD v3: 1-211379605-T-C
• gnomAD v4: 1-211379605-T-C
• MyVariant Identifiers: chr1:g.211552947T>C (hg19) ; chr1:g.211379605T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211379605T>C , CM000663.2:g.211379605T>C	GRCh38
NC_000001.10:g.211552947T>C , CM000663.1:g.211552947T>C	GRCh37
NC_000001.9:g.209619570T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001738446.1:n.292-2489A>G