Canonical Allele Identifier: CA849634542

Gene:

Linked Data

• dbSNP Id: rs1453443765
• gnomAD v3: 8-20130201-G-T
• gnomAD v4: 8-20130201-G-T
• MyVariant Identifiers: chr8:g.19987712G>T (hg19) ; chr8:g.20130201G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20130201G>T , CM000670.2:g.20130201G>T	GRCh38
NC_000008.10:g.19987712G>T , CM000670.1:g.19987712G>T	GRCh37
NC_000008.9:g.20031992G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949563.1:n.3408+282G>T
XR_949563.2:n.3400+282G>T