Canonical Allele Identifier: CA511338816
Gene: CHRNA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.61981806C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350454C>A , CM000682.2:g.63350454C>A GRCh38
NC_000020.10:g.61981806C>A , CM000682.1:g.61981806C>A GRCh37
NC_000020.9:g.61452250C>A NCBI36
NG_011931.1:g.15890G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.957G>T MANE Select ENSP00000359285.4:p.Leu319=
ENST00000370263.8:c.957G>T ENSP00000359285.4:p.Leu319=
ENST00000463705.5:n.1605G>T
ENST00000467563.3:n.1027G>T
ENST00000498043.6:c.981G>T
ENST00000615287.4:c.744G>T ENSP00000483388.1:p.Leu248=
ENST00000627000.1:c.*646G>T ENSP00000486914.1:n.*646G>T
ENST00000630240.1:n.678G>T
NM_000744.6:c.957G>T NP_000735.1:p.Leu319=
NM_001256573.1:c.429G>T NP_001243502.1:p.Leu143=
NR_046317.1:n.1213G>T
XM_011528524.1:c.744G>T XP_011526826.1:p.Leu248=
XM_017027625.2:c.429G>T XP_016883114.1:p.Leu143=
XM_024451822.1:c.429G>T XP_024307590.1:p.Leu143=
NM_001256573.2:c.429G>T NP_001243502.1:p.Leu143=
NR_046317.2:n.1166G>T
NM_000744.7:c.957G>T MANE Select NP_000735.1:p.Leu319=