Canonical Allele Identifier: CA150422
Gene: CHRNA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 98321
ClinVar RCV Id: RCV000084611 RCV000124293 RCV000726373 RCV001087085 RCV002399476 RCV003964952
dbSNP Id: rs121912283
ExAC: 20:61981128 C / T
gnomAD v2: 20-61981128-C-T
gnomAD v3: 20-63349776-C-T
gnomAD v4: 20-63349776-C-T
COSMIC: COSM2931856
MyVariant Identifiers: chr20:g.61981128C>T (hg19) chr20:g.63349776C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63349776C>T , CM000682.2:g.63349776C>T GRCh38
NC_000020.10:g.61981128C>T , CM000682.1:g.61981128C>T GRCh37
NC_000020.9:g.61451572C>T NCBI36
NG_011931.1:g.16568G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.1635G>A MANE Select ENSP00000359285.4:p.Thr545=
ENST00000370263.8:c.1635G>A ENSP00000359285.4:p.Thr545=
ENST00000463705.5:n.2283G>A
ENST00000467563.3:n.1705G>A
ENST00000498043.6:c.1659G>A
ENST00000615287.4:c.1422G>A ENSP00000483388.1:p.Thr474=
ENST00000627000.1:c.*1324G>A ENSP00000486914.1:n.*1324G>A
ENST00000630240.1:n.1356G>A
NM_000744.6:c.1635G>A NP_000735.1:p.Thr545=
NM_001256573.1:c.1107G>A NP_001243502.1:p.Thr369=
NR_046317.1:n.1891G>A
XM_011528524.1:c.1422G>A XP_011526826.1:p.Thr474=
XM_017027625.2:c.1107G>A XP_016883114.1:p.Thr369=
XM_024451822.1:c.1107G>A XP_024307590.1:p.Thr369=
NM_001256573.2:c.1107G>A NP_001243502.1:p.Thr369=
NR_046317.2:n.1844G>A
NM_000744.7:c.1635G>A MANE Select NP_000735.1:p.Thr545=
Search 100 bp 5'
Search 100 bp 3'