Canonical Allele Identifier: CA185688705

Gene:

Linked Data

• dbSNP Id: rs1021254337
• gnomAD v3: 8-126999742-A-G
• gnomAD v4: 8-126999742-A-G
• MyVariant Identifiers: chr8:g.128011987A>G (hg19) ; chr8:g.126999742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999742A>G , CM000670.2:g.126999742A>G	GRCh38
NC_000008.10:g.128011987A>G , CM000670.1:g.128011987A>G	GRCh37
NC_000008.9:g.128081169A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001746076.2:n.1301-6813A>G