Canonical Allele Identifier: CA2689658572
Gene: C9orf72 HGNC NCBI

Linked Data

gnomAD v4: 9-27543285-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27543285A>G , CM000671.2:g.27543285A>G GRCh38
NC_000009.11:g.27543283A>G , CM000671.1:g.27543283A>G GRCh37
NC_000009.10:g.27533283A>G NCBI36
NG_031977.2:g.35582T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673600.1:c.*267+4830T>C ENSP00000500650.1:n.*267+4830T>C
XR_001746639.2:n.860T>C