Canonical Allele Identifier: CA2687741452

Gene:

Linked Data

• gnomAD v4: 8-81478394-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478394A>G , CM000670.2:g.81478394A>G	GRCh38
NC_000008.10:g.82390629A>G , CM000670.1:g.82390629A>G	GRCh37
NC_000008.9:g.82553184A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16420A>G