Canonical Allele Identifier: CA511338861
Gene: CHRNA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.61981833C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350481C>T , CM000682.2:g.63350481C>T GRCh38
NC_000020.10:g.61981833C>T , CM000682.1:g.61981833C>T GRCh37
NC_000020.9:g.61452277C>T NCBI36
NG_011931.1:g.15863G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.930G>A MANE Select ENSP00000359285.4:p.Leu310=
ENST00000370263.8:c.930G>A ENSP00000359285.4:p.Leu310=
ENST00000463705.5:n.1578G>A
ENST00000467563.3:n.1000G>A
ENST00000498043.6:c.954G>A
ENST00000615287.4:c.717G>A ENSP00000483388.1:p.Leu239=
ENST00000627000.1:c.*619G>A ENSP00000486914.1:n.*619G>A
ENST00000630240.1:n.651G>A
NM_000744.6:c.930G>A NP_000735.1:p.Leu310=
NM_001256573.1:c.402G>A NP_001243502.1:p.Leu134=
NR_046317.1:n.1186G>A
XM_011528524.1:c.717G>A XP_011526826.1:p.Leu239=
XM_017027625.2:c.402G>A XP_016883114.1:p.Leu134=
XM_024451822.1:c.402G>A XP_024307590.1:p.Leu134=
NM_001256573.2:c.402G>A NP_001243502.1:p.Leu134=
NR_046317.2:n.1139G>A
NM_000744.7:c.930G>A MANE Select NP_000735.1:p.Leu310=