Canonical Allele Identifier: CA409635490

Gene: CHRNA4

Linked Data

• MyVariant Identifiers: chr20:g.61981734C>A (hg19) ; chr20:g.63350382C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350382C>A , CM000682.2:g.63350382C>A	GRCh38
NC_000020.10:g.61981734C>A , CM000682.1:g.61981734C>A	GRCh37
NC_000020.9:g.61452178C>A	NCBI36
NG_011931.1:g.15962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1029G>T MANE Select	ENSP00000359285.4:p.Trp343Cys
ENST00000370263.8:c.1029G>T	ENSP00000359285.4:p.Trp343Cys
ENST00000463705.5:n.1677G>T
ENST00000467563.3:n.1099G>T
ENST00000498043.6:c.1053G>T
ENST00000615287.4:c.816G>T	ENSP00000483388.1:p.Trp272Cys
ENST00000627000.1:c.*718G>T	ENSP00000486914.1:n.*718G>T
ENST00000630240.1:n.750G>T
NM_000744.6:c.1029G>T	NP_000735.1:p.Trp343Cys
NM_001256573.1:c.501G>T	NP_001243502.1:p.Trp167Cys
NR_046317.1:n.1285G>T
XM_011528524.1:c.816G>T	XP_011526826.1:p.Trp272Cys
XM_017027625.2:c.501G>T	XP_016883114.1:p.Trp167Cys
XM_024451822.1:c.501G>T	XP_024307590.1:p.Trp167Cys
NM_001256573.2:c.501G>T	NP_001243502.1:p.Trp167Cys
NR_046317.2:n.1238G>T
NM_000744.7:c.1029G>T MANE Select	NP_000735.1:p.Trp343Cys