Canonical Allele Identifier: CA2689658571
Gene: C9orf72 HGNC NCBI

Linked Data

gnomAD v4: 9-27543284-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27543284A>G , CM000671.2:g.27543284A>G GRCh38
NC_000009.11:g.27543282A>G , CM000671.1:g.27543282A>G GRCh37
NC_000009.10:g.27533282A>G NCBI36
NG_031977.2:g.35583T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673600.1:c.*267+4831T>C ENSP00000500650.1:n.*267+4831T>C
XR_001746639.2:n.861T>C