Canonical Allele Identifier: CA409638286
Gene: CHRNA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2972146
ClinVar RCV Id: RCV003835272

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350906G>A , CM000682.2:g.63350906G>A GRCh38
NC_000020.10:g.61982258G>A , CM000682.1:g.61982258G>A GRCh37
NC_000020.9:g.61452702G>A NCBI36
NG_011931.1:g.15438C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.505C>T MANE Select ENSP00000359285.4:p.Pro169Ser
ENST00000370263.8:c.505C>T ENSP00000359285.4:p.Pro169Ser
ENST00000463705.5:n.1153C>T
ENST00000467563.3:n.575C>T
ENST00000498043.6:c.529C>T
ENST00000615287.4:c.292C>T ENSP00000483388.1:p.Pro98Ser
ENST00000627000.1:c.*194C>T ENSP00000486914.1:n.*194C>T
ENST00000630240.1:n.226C>T
NM_000744.6:c.505C>T NP_000735.1:p.Pro169Ser
NM_001256573.1:c.-24C>T NP_001243502.1:n.-24C>T
NR_046317.1:n.761C>T
XM_011528524.1:c.292C>T XP_011526826.1:p.Pro98Ser
XM_017027625.2:c.-24C>T XP_016883114.1:n.-24C>T
XM_024451822.1:c.-24C>T XP_024307590.1:n.-24C>T
NM_001256573.2:c.-24C>T NP_001243502.1:n.-24C>T
NR_046317.2:n.714C>T
NM_000744.7:c.505C>T MANE Select NP_000735.1:p.Pro169Ser