Canonical Allele Identifier: CA847111697

Gene:

Linked Data

• dbSNP Id: rs1452454448
• MyVariant Identifiers: chr8:g.128011911A>C (hg19) ; chr8:g.126999666A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999666A>C , CM000670.2:g.126999666A>C	GRCh38
NC_000008.10:g.128011911A>C , CM000670.1:g.128011911A>C	GRCh37
NC_000008.9:g.128081093A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001746076.2:n.1301-6889A>C