Canonical Allele Identifier: CA849634545

Gene:

Linked Data

• dbSNP Id: rs1178449307
• gnomAD v3: 8-20130207-T-G
• gnomAD v4: 8-20130207-T-G
• MyVariant Identifiers: chr8:g.19987718T>G (hg19) ; chr8:g.20130207T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20130207T>G , CM000670.2:g.20130207T>G	GRCh38
NC_000008.10:g.19987718T>G , CM000670.1:g.19987718T>G	GRCh37
NC_000008.9:g.20031998T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949563.1:n.3408+288T>G
XR_949563.2:n.3400+288T>G