Canonical Allele Identifier: CA15594296
Gene: C9orf72 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.27536399C>T
GRCh37 chr9:g.27536397C>T
gnomAD v2:
9:27536397 C / T
gnomAD v3:
9:27536399 C / T
gnomAD v4:
chr9-27536399-C-T
Joint Max Group AF 0.23499513 (NFE)
Genomes Max Group AF 0.2350149 (NFE)
ClinVar Allele:
2737548
ClinVar RCV:
RCV003314487
ClinVar Variation:
2572602
dbSNP:
2814707
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27536399C>T , CM000671.2:g.27536399C>T GRCh38
NC_000009.11:g.27536397C>T , CM000671.1:g.27536397C>T GRCh37
NC_000009.10:g.27526397C>T NCBI36
NG_031977.2:g.42468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673600.1:c.*268-113G>A ENSP00000500650.1:n.*268-113G>A
XR_001746639.2:n.7234-113G>A
XR_002956873.1:n.1099C>T
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