Canonical Allele Identifier: CA409636777

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1043499
• ClinVar RCV Id: RCV001347615 ; RCV003438748
• dbSNP Id: rs770780958
• gnomAD v3: 20-63350633-G-T
• gnomAD v4: 20-63350633-G-T
• MyVariant Identifiers: chr20:g.61981985G>T (hg19) ; chr20:g.63350633G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350633G>T , CM000682.2:g.63350633G>T	GRCh38
NC_000020.10:g.61981985G>T , CM000682.1:g.61981985G>T	GRCh37
NC_000020.9:g.61452429G>T	NCBI36
NG_011931.1:g.15711C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.778C>A MANE Select	ENSP00000359285.4:p.Leu260Ile
ENST00000370263.8:c.778C>A	ENSP00000359285.4:p.Leu260Ile
ENST00000463705.5:n.1426C>A
ENST00000467563.3:n.848C>A
ENST00000498043.6:c.802C>A
ENST00000615287.4:c.565C>A	ENSP00000483388.1:p.Leu189Ile
ENST00000627000.1:c.*467C>A	ENSP00000486914.1:n.*467C>A
ENST00000630240.1:n.499C>A
NM_000744.6:c.778C>A	NP_000735.1:p.Leu260Ile
NM_001256573.1:c.250C>A	NP_001243502.1:p.Leu84Ile
NR_046317.1:n.1034C>A
XM_011528524.1:c.565C>A	XP_011526826.1:p.Leu189Ile
XM_017027625.2:c.250C>A	XP_016883114.1:p.Leu84Ile
XM_024451822.1:c.250C>A	XP_024307590.1:p.Leu84Ile
NM_001256573.2:c.250C>A	NP_001243502.1:p.Leu84Ile
NR_046317.2:n.987C>A
NM_000744.7:c.778C>A MANE Select	NP_000735.1:p.Leu260Ile