Canonical Allele Identifier: CA2898103
Gene: CHRNA9 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.40354024C>A
GRCh37 chr4:g.40356041C>A
Revel Score:
ENST00000310169 (MANE Select) 0.779
gnomAD v2:
4:40356041 C / A
gnomAD v3:
4:40354024 C / A
gnomAD v4:
chr4-40354024-C-A
Joint Max Group AF 0.00010211 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00010374 (NFE)
dbSNP:
55633891
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.944C>A MANE Select ENSP00000312663.2:p.Ala315Glu
ENST00000310169.2:c.944C>A ENSP00000312663.2:p.Ala315Glu
ENST00000509518.1:n.395C>A
NM_017581.3:c.944C>A NP_060051.2:p.Ala315Glu
NM_017581.4:c.944C>A MANE Select NP_060051.2:p.Ala315Glu
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