Canonical Allele Identifier: CA2689658586
Gene: C9orf72 HGNC NCBI

Linked Data

dbSNP Id: rs2131522310
gnomAD v4: 9-27543302-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27543302C>T , CM000671.2:g.27543302C>T GRCh38
NC_000009.11:g.27543300C>T , CM000671.1:g.27543300C>T GRCh37
NC_000009.10:g.27533300C>T NCBI36
NG_031977.2:g.35565G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673600.1:c.*267+4813G>A ENSP00000500650.1:n.*267+4813G>A
XR_001746639.2:n.843G>A