Canonical Allele Identifier: CA732115130

Gene:

Linked Data

• dbSNP Id: rs1400787029
• MyVariant Identifiers: chr1:g.224256176A>C (hg19) ; chr1:g.224068474A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224068474A>C , CM000663.2:g.224068474A>C	GRCh38
NC_000001.10:g.224256176A>C , CM000663.1:g.224256176A>C	GRCh37
NC_000001.9:g.222322799A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_949173.1:n.385+820A>C
XR_001737824.1:n.242+820A>C