Canonical Allele Identifier: CA409635978

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 968755
• ClinVar RCV Id: RCV001243963
• dbSNP Id: rs2068575976
• MyVariant Identifiers: chr20:g.61981813A>T (hg19) ; chr20:g.63350461A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350461A>T , CM000682.2:g.63350461A>T	GRCh38
NC_000020.10:g.61981813A>T , CM000682.1:g.61981813A>T	GRCh37
NC_000020.9:g.61452257A>T	NCBI36
NG_011931.1:g.15883T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.950T>A MANE Select	ENSP00000359285.4:p.Val317Asp
ENST00000370263.8:c.950T>A	ENSP00000359285.4:p.Val317Asp
ENST00000463705.5:n.1598T>A
ENST00000467563.3:n.1020T>A
ENST00000498043.6:c.974T>A
ENST00000615287.4:c.737T>A	ENSP00000483388.1:p.Val246Asp
ENST00000627000.1:c.*639T>A	ENSP00000486914.1:n.*639T>A
ENST00000630240.1:n.671T>A
NM_000744.6:c.950T>A	NP_000735.1:p.Val317Asp
NM_001256573.1:c.422T>A	NP_001243502.1:p.Val141Asp
NR_046317.1:n.1206T>A
XM_011528524.1:c.737T>A	XP_011526826.1:p.Val246Asp
XM_017027625.2:c.422T>A	XP_016883114.1:p.Val141Asp
XM_024451822.1:c.422T>A	XP_024307590.1:p.Val141Asp
NM_001256573.2:c.422T>A	NP_001243502.1:p.Val141Asp
NR_046317.2:n.1159T>A
NM_000744.7:c.950T>A MANE Select	NP_000735.1:p.Val317Asp