Canonical Allele Identifier: CA409632975

Gene: CHRNA4

Linked Data

• MyVariant Identifiers: chr20:g.61981207T>G (hg19) ; chr20:g.63349855T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349855T>G , CM000682.2:g.63349855T>G	GRCh38
NC_000020.10:g.61981207T>G , CM000682.1:g.61981207T>G	GRCh37
NC_000020.9:g.61451651T>G	NCBI36
NG_011931.1:g.16489A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1556A>C MANE Select	ENSP00000359285.4:p.Glu519Ala
ENST00000370263.8:c.1556A>C	ENSP00000359285.4:p.Glu519Ala
ENST00000463705.5:n.2204A>C
ENST00000467563.3:n.1626A>C
ENST00000498043.6:c.1580A>C
ENST00000615287.4:c.1343A>C	ENSP00000483388.1:p.Glu448Ala
ENST00000627000.1:c.*1245A>C	ENSP00000486914.1:n.*1245A>C
ENST00000630240.1:n.1277A>C
NM_000744.6:c.1556A>C	NP_000735.1:p.Glu519Ala
NM_001256573.1:c.1028A>C	NP_001243502.1:p.Glu343Ala
NR_046317.1:n.1812A>C
XM_011528524.1:c.1343A>C	XP_011526826.1:p.Glu448Ala
XM_017027625.2:c.1028A>C	XP_016883114.1:p.Glu343Ala
XM_024451822.1:c.1028A>C	XP_024307590.1:p.Glu343Ala
NM_001256573.2:c.1028A>C	NP_001243502.1:p.Glu343Ala
NR_046317.2:n.1765A>C
NM_000744.7:c.1556A>C MANE Select	NP_000735.1:p.Glu519Ala