Canonical Allele Identifier: CA409632813

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1449383
• ClinVar RCV Id: RCV001997524
• dbSNP Id: rs2123470034
• MyVariant Identifiers: chr20:g.61981174T>G (hg19) ; chr20:g.63349822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349822T>G , CM000682.2:g.63349822T>G	GRCh38
NC_000020.10:g.61981174T>G , CM000682.1:g.61981174T>G	GRCh37
NC_000020.9:g.61451618T>G	NCBI36
NG_011931.1:g.16522A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1589A>C MANE Select	ENSP00000359285.4:p.Lys530Thr
ENST00000370263.8:c.1589A>C	ENSP00000359285.4:p.Lys530Thr
ENST00000463705.5:n.2237A>C
ENST00000467563.3:n.1659A>C
ENST00000498043.6:c.1613A>C
ENST00000615287.4:c.1376A>C	ENSP00000483388.1:p.Lys459Thr
ENST00000627000.1:c.*1278A>C	ENSP00000486914.1:n.*1278A>C
ENST00000630240.1:n.1310A>C
NM_000744.6:c.1589A>C	NP_000735.1:p.Lys530Thr
NM_001256573.1:c.1061A>C	NP_001243502.1:p.Lys354Thr
NR_046317.1:n.1845A>C
XM_011528524.1:c.1376A>C	XP_011526826.1:p.Lys459Thr
XM_017027625.2:c.1061A>C	XP_016883114.1:p.Lys354Thr
XM_024451822.1:c.1061A>C	XP_024307590.1:p.Lys354Thr
NM_001256573.2:c.1061A>C	NP_001243502.1:p.Lys354Thr
NR_046317.2:n.1798A>C
NM_000744.7:c.1589A>C MANE Select	NP_000735.1:p.Lys530Thr