Canonical Allele Identifier: CA2689658580
Gene: C9orf72 HGNC NCBI

Linked Data

gnomAD v4: 9-27543295-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27543295G>T , CM000671.2:g.27543295G>T GRCh38
NC_000009.11:g.27543293G>T , CM000671.1:g.27543293G>T GRCh37
NC_000009.10:g.27533293G>T NCBI36
NG_031977.2:g.35572C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673600.1:c.*267+4820C>A ENSP00000500650.1:n.*267+4820C>A
XR_001746639.2:n.850C>A