Canonical Allele Identifier: CA2898102
Gene: CHRNA9 HGNC NCBI
COSMIC:
COSM3774142 (not active)
MyVariant.info:
GRCh38 chr4:g.40354024C>T
GRCh37 chr4:g.40356041C>T
Revel Score:
ENST00000310169 (MANE Select) 0.389
gnomAD v2:
4:40356041 C / T
gnomAD v3:
4:40354024 C / T
gnomAD v4:
chr4-40354024-C-T
Joint Max Group AF 0.15185184 (EAS)
Genomes Max Group AF 0.14130049 (AFR)
Exomes Max Group AF 0.15498269 (EAS)
dbSNP:
55633891
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354024C>T , CM000666.2:g.40354024C>T GRCh38
NC_000004.11:g.40356041C>T , CM000666.1:g.40356041C>T GRCh37
NC_000004.10:g.40050798C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.944C>T MANE Select ENSP00000312663.2:p.Ala315Val
ENST00000310169.2:c.944C>T ENSP00000312663.2:p.Ala315Val
ENST00000509518.1:n.395C>T
NM_017581.3:c.944C>T NP_060051.2:p.Ala315Val
NM_017581.4:c.944C>T MANE Select NP_060051.2:p.Ala315Val
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