Canonical Allele Identifier: CA9957424
Gene: CHRNA4 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.63346204G>A
GRCh37 chr20:g.61977556G>A
gnomAD v2:
20:61977556 G / A
gnomAD v3:
20:63346204 G / A
gnomAD v4:
chr20-63346204-G-A
Joint Max Group AF 0.84868166 (EAS)
Genomes Max Group AF 0.83852966 (EAS)
Exomes Max Group AF 0.84648728 (EAS)
ClinVar RCV:
RCV001520999
RCV002495831
ClinVar Variation:
1169560
dbSNP:
2236196
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63346204G>A , CM000682.2:g.63346204G>A GRCh38
NC_000020.10:g.61977556G>A , CM000682.1:g.61977556G>A GRCh37
NC_000020.9:g.61448000G>A NCBI36
NG_011931.1:g.20140C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.*534C>T MANE Select ENSP00000359285.4:n.*534C>T
ENST00000370263.8:c.*534C>T ENSP00000359285.4:n.*534C>T
ENST00000463705.5:n.3066C>T
ENST00000615287.4:c.*534C>T ENSP00000483388.1:n.*534C>T
ENST00000631289.1:n.732C>T
NM_000744.6:c.*534C>T NP_000735.1:n.*534C>T
NM_001256573.1:c.*534C>T NP_001243502.1:n.*534C>T
NR_046317.1:n.2674C>T
XM_011528524.1:c.*534C>T XP_011526826.1:n.*534C>T
XM_017027625.2:c.*534C>T XP_016883114.1:n.*534C>T
XM_024451822.1:c.*534C>T XP_024307590.1:n.*534C>T
NM_001256573.2:c.*534C>T NP_001243502.1:n.*534C>T
NR_046317.2:n.2627C>T
NM_000744.7:c.*534C>T MANE Select NP_000735.1:n.*534C>T
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