Canonical Allele Identifier: CA409635391

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1800556
• ClinVar RCV Id: RCV002461695
• MyVariant Identifiers: chr20:g.61981717A>G (hg19) ; chr20:g.63350365A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350365A>G , CM000682.2:g.63350365A>G	GRCh38
NC_000020.10:g.61981717A>G , CM000682.1:g.61981717A>G	GRCh37
NC_000020.9:g.61452161A>G	NCBI36
NG_011931.1:g.15979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1046T>C MANE Select	ENSP00000359285.4:p.Leu349Pro
ENST00000370263.8:c.1046T>C	ENSP00000359285.4:p.Leu349Pro
ENST00000463705.5:n.1694T>C
ENST00000467563.3:n.1116T>C
ENST00000498043.6:c.1070T>C
ENST00000615287.4:c.833T>C	ENSP00000483388.1:p.Leu278Pro
ENST00000627000.1:c.*735T>C	ENSP00000486914.1:n.*735T>C
ENST00000630240.1:n.767T>C
NM_000744.6:c.1046T>C	NP_000735.1:p.Leu349Pro
NM_001256573.1:c.518T>C	NP_001243502.1:p.Leu173Pro
NR_046317.1:n.1302T>C
XM_011528524.1:c.833T>C	XP_011526826.1:p.Leu278Pro
XM_017027625.2:c.518T>C	XP_016883114.1:p.Leu173Pro
XM_024451822.1:c.518T>C	XP_024307590.1:p.Leu173Pro
NM_001256573.2:c.518T>C	NP_001243502.1:p.Leu173Pro
NR_046317.2:n.1255T>C
NM_000744.7:c.1046T>C MANE Select	NP_000735.1:p.Leu349Pro