Canonical Allele Identifier: CA185200453

Gene:

Linked Data

• dbSNP Id: rs181790342
• MyVariant Identifiers: chr8:g.123408481G>C (hg19) ; chr8:g.122396242G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122396242G>C , CM000670.2:g.122396242G>C	GRCh38
NC_000008.10:g.123408481G>C , CM000670.1:g.123408481G>C	GRCh37
NC_000008.9:g.123477662G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+2930C>G
XR_928599.3:n.152+2930C>G