Canonical Allele Identifier: CA409632761

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 2282260
• ClinVar RCV Id: RCV002831129
• MyVariant Identifiers: chr20:g.61981168G>A (hg19) ; chr20:g.63349816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349816G>A , CM000682.2:g.63349816G>A	GRCh38
NC_000020.10:g.61981168G>A , CM000682.1:g.61981168G>A	GRCh37
NC_000020.9:g.61451612G>A	NCBI36
NG_011931.1:g.16528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1595C>T MANE Select	ENSP00000359285.4:p.Thr532Ile
ENST00000370263.8:c.1595C>T	ENSP00000359285.4:p.Thr532Ile
ENST00000463705.5:n.2243C>T
ENST00000467563.3:n.1665C>T
ENST00000498043.6:c.1619C>T
ENST00000615287.4:c.1382C>T	ENSP00000483388.1:p.Thr461Ile
ENST00000627000.1:c.*1284C>T	ENSP00000486914.1:n.*1284C>T
ENST00000630240.1:n.1316C>T
NM_000744.6:c.1595C>T	NP_000735.1:p.Thr532Ile
NM_001256573.1:c.1067C>T	NP_001243502.1:p.Thr356Ile
NR_046317.1:n.1851C>T
XM_011528524.1:c.1382C>T	XP_011526826.1:p.Thr461Ile
XM_017027625.2:c.1067C>T	XP_016883114.1:p.Thr356Ile
XM_024451822.1:c.1067C>T	XP_024307590.1:p.Thr356Ile
NM_001256573.2:c.1067C>T	NP_001243502.1:p.Thr356Ile
NR_046317.2:n.1804C>T
NM_000744.7:c.1595C>T MANE Select	NP_000735.1:p.Thr532Ile