Canonical Allele Identifier: CA150462

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 98341
• ClinVar RCV Id: RCV000084631
• dbSNP Id: rs121912260
• MyVariant Identifiers: chr20:g.61981810G>A (hg19) ; chr20:g.63350458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350458G>A , CM000682.2:g.63350458G>A	GRCh38
NC_000020.10:g.61981810G>A , CM000682.1:g.61981810G>A	GRCh37
NC_000020.9:g.61452254G>A	NCBI36
NG_011931.1:g.15886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.953C>T MANE Select	ENSP00000359285.4:p.Thr318Ile
ENST00000370263.8:c.953C>T	ENSP00000359285.4:p.Thr318Ile
ENST00000463705.5:n.1601C>T
ENST00000467563.3:n.1023C>T
ENST00000498043.6:c.977C>T
ENST00000615287.4:c.740C>T	ENSP00000483388.1:p.Thr247Ile
ENST00000627000.1:c.*642C>T	ENSP00000486914.1:n.*642C>T
ENST00000630240.1:n.674C>T
NM_000744.6:c.953C>T	NP_000735.1:p.Thr318Ile
NM_001256573.1:c.425C>T	NP_001243502.1:p.Thr142Ile
NR_046317.1:n.1209C>T
XM_011528524.1:c.740C>T	XP_011526826.1:p.Thr247Ile
XM_017027625.2:c.425C>T	XP_016883114.1:p.Thr142Ile
XM_024451822.1:c.425C>T	XP_024307590.1:p.Thr142Ile
NM_001256573.2:c.425C>T	NP_001243502.1:p.Thr142Ile
NR_046317.2:n.1162C>T
NM_000744.7:c.953C>T MANE Select	NP_000735.1:p.Thr318Ile