Canonical Allele Identifier: CA652474085

Gene:

Linked Data

• gnomAD v4: 8-81478404-C-A
• COSMIC: COSN6601693

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478404C>A , CM000670.2:g.81478404C>A	GRCh38
NC_000008.10:g.82390639C>A , CM000670.1:g.82390639C>A	GRCh37
NC_000008.9:g.82553194C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16430C>A