Canonical Allele Identifier: CA730997234

Gene:

Linked Data

• dbSNP Id: rs1388989812
• MyVariant Identifiers: chr1:g.211552977C>G (hg19) ; chr1:g.211379635C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211379635C>G , CM000663.2:g.211379635C>G	GRCh38
NC_000001.10:g.211552977C>G , CM000663.1:g.211552977C>G	GRCh37
NC_000001.9:g.209619600C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738446.1:n.292-2519G>C