Canonical Allele Identifier: CA2689658578
Gene: C9orf72 HGNC NCBI

Linked Data

gnomAD v4: 9-27543294-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27543294C>A , CM000671.2:g.27543294C>A GRCh38
NC_000009.11:g.27543292C>A , CM000671.1:g.27543292C>A GRCh37
NC_000009.10:g.27533292C>A NCBI36
NG_031977.2:g.35573G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000673600.1:c.*267+4821G>T ENSP00000500650.1:n.*267+4821G>T
XR_001746639.2:n.851G>T
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