Canonical Allele Identifier: CA862776179
Gene: C9orf72 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.27536399C>G
GRCh37 chr9:g.27536397C>G
gnomAD v3:
9:27536399 C / G
gnomAD v4:
chr9-27536399-C-G
Joint Max Group AF 0.00001923 (AFR)
Genomes Max Group AF 0.00001923 (AFR)
dbSNP:
2814707
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000673600.1:c.*268-113G>C ENSP00000500650.1:n.*268-113G>C
XR_001746639.2:n.7234-113G>C
XR_002956873.1:n.1099C>G
Search 100 bp 5'
Search 100 bp 3'