Canonical Allele Identifier: CA511339124

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1612860
• ClinVar RCV Id: RCV002170974
• dbSNP Id: rs200063611
• MyVariant Identifiers: chr20:g.61982076G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350724G>T , CM000682.2:g.63350724G>T	GRCh38
NC_000020.10:g.61982076G>T , CM000682.1:g.61982076G>T	GRCh37
NC_000020.9:g.61452520G>T	NCBI36
NG_011931.1:g.15620C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.687C>A MANE Select	ENSP00000359285.4:p.Ile229=
ENST00000370263.8:c.687C>A	ENSP00000359285.4:p.Ile229=
ENST00000463705.5:n.1335C>A
ENST00000467563.3:n.757C>A
ENST00000498043.6:c.711C>A
ENST00000615287.4:c.474C>A	ENSP00000483388.1:p.Ile158=
ENST00000627000.1:c.*376C>A	ENSP00000486914.1:n.*376C>A
ENST00000630240.1:n.408C>A
NM_000744.6:c.687C>A	NP_000735.1:p.Ile229=
NM_001256573.1:c.159C>A	NP_001243502.1:p.Ile53=
NR_046317.1:n.943C>A
XM_011528524.1:c.474C>A	XP_011526826.1:p.Ile158=
XM_017027625.2:c.159C>A	XP_016883114.1:p.Ile53=
XM_024451822.1:c.159C>A	XP_024307590.1:p.Ile53=
NM_001256573.2:c.159C>A	NP_001243502.1:p.Ile53=
NR_046317.2:n.896C>A
NM_000744.7:c.687C>A MANE Select	NP_000735.1:p.Ile229=