Canonical Allele Identifier: CA198307090
Gene: C9orf152 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.110201438T>C
GRCh37 chr9:g.112963718T>C
Revel Score:
ENST00000400613 (MANE Select) 0.029
gnomAD v3:
9:110201438 T / C
gnomAD v4:
chr9-110201438-T-C
Joint Max Group AF 0.00001106 (AFR)
Genomes Max Group AF 0.000008 (AFR)
ClinVar RCV:
RCV004238754
ClinVar Variation:
2401868
dbSNP:
1038984113
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.110201438T>C , CM000671.2:g.110201438T>C GRCh38
NC_000009.11:g.112963718T>C , CM000671.1:g.112963718T>C GRCh37
NC_000009.10:g.112003539T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400613.5:c.230A>G MANE Select ENSP00000383456.4:p.Asn77Ser
ENST00000400613.4:c.230A>G ENSP00000383456.4:p.Asn77Ser
ENST00000473442.1:n.94+5949A>G
NM_001012993.2:c.230A>G NP_001013011.2:p.Asn77Ser
XM_011518690.1:c.95A>G XP_011516992.1:p.Asn32Ser
NM_001012993.3:c.230A>G MANE Select NP_001013011.2:p.Asn77Ser
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