Canonical Allele Identifier: CA95758653
Gene: CHRNA9 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.40354882C>T
GRCh37 chr4:g.40356899C>T
gnomAD v2:
4:40356899 C / T
gnomAD v3:
4:40354882 C / T
gnomAD v4:
chr4-40354882-C-T
Joint Max Group AF 0.22887757 (AFR)
Genomes Max Group AF 0.22984648 (AFR)
Exomes Max Group AF 0.15448829 (AFR)
dbSNP:
56291234
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354882C>T , CM000666.2:g.40354882C>T GRCh38
NC_000004.11:g.40356899C>T , CM000666.1:g.40356899C>T GRCh37
NC_000004.10:g.40051656C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.*362C>T MANE Select ENSP00000312663.2:n.*362C>T
ENST00000310169.2:c.*362C>T ENSP00000312663.2:n.*362C>T
NM_017581.3:c.*362C>T NP_060051.2:n.*362C>T
NM_017581.4:c.*362C>T MANE Select NP_060051.2:n.*362C>T
Search 100 bp 5'
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