Canonical Allele Identifier: CA511338832
Gene: CHRNA4 HGNC NCBI

Linked Data

COSMIC: COSM347195
MyVariant Identifiers: chr20:g.61981914C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350562C>A , CM000682.2:g.63350562C>A GRCh38
NC_000020.10:g.61981914C>A , CM000682.1:g.61981914C>A GRCh37
NC_000020.9:g.61452358C>A NCBI36
NG_011931.1:g.15782G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.849G>T MANE Select ENSP00000359285.4:p.Leu283=
ENST00000370263.8:c.849G>T ENSP00000359285.4:p.Leu283=
ENST00000463705.5:n.1497G>T
ENST00000467563.3:n.919G>T
ENST00000498043.6:c.873G>T
ENST00000615287.4:c.636G>T ENSP00000483388.1:p.Leu212=
ENST00000627000.1:c.*538G>T ENSP00000486914.1:n.*538G>T
ENST00000630240.1:n.570G>T
NM_000744.6:c.849G>T NP_000735.1:p.Leu283=
NM_001256573.1:c.321G>T NP_001243502.1:p.Leu107=
NR_046317.1:n.1105G>T
XM_011528524.1:c.636G>T XP_011526826.1:p.Leu212=
XM_017027625.2:c.321G>T XP_016883114.1:p.Leu107=
XM_024451822.1:c.321G>T XP_024307590.1:p.Leu107=
NM_001256573.2:c.321G>T NP_001243502.1:p.Leu107=
NR_046317.2:n.1058G>T
NM_000744.7:c.849G>T MANE Select NP_000735.1:p.Leu283=