Canonical Allele Identifier: CA511339047

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1130983
• ClinVar RCV Id: RCV001464697
• dbSNP Id: rs61734382
• gnomAD v4: 20-63350922-G-A
• COSMIC: COSM1029079
• MyVariant Identifiers: chr20:g.61982274G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350922G>A , CM000682.2:g.63350922G>A	GRCh38
NC_000020.10:g.61982274G>A , CM000682.1:g.61982274G>A	GRCh37
NC_000020.9:g.61452718G>A	NCBI36
NG_011931.1:g.15422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.489C>T MANE Select	ENSP00000359285.4:p.Ile163=
ENST00000370263.8:c.489C>T	ENSP00000359285.4:p.Ile163=
ENST00000463705.5:n.1137C>T
ENST00000467563.3:n.559C>T
ENST00000498043.6:c.513C>T
ENST00000615287.4:c.276C>T	ENSP00000483388.1:p.Ile92=
ENST00000627000.1:c.*178C>T	ENSP00000486914.1:n.*178C>T
ENST00000628665.1:n.532C>T
ENST00000630240.1:n.210C>T
NM_000744.6:c.489C>T	NP_000735.1:p.Ile163=
NM_001256573.1:c.-40C>T	NP_001243502.1:n.-40C>T
NR_046317.1:n.745C>T
XM_011528524.1:c.276C>T	XP_011526826.1:p.Ile92=
XM_017027625.2:c.-40C>T	XP_016883114.1:n.-40C>T
XM_024451822.1:c.-40C>T	XP_024307590.1:n.-40C>T
NM_001256573.2:c.-40C>T	NP_001243502.1:n.-40C>T
NR_046317.2:n.698C>T
NM_000744.7:c.489C>T MANE Select	NP_000735.1:p.Ile163=