Canonical Allele Identifier: CA9957703

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 2719520
• ClinVar RCV Id: RCV003583451
• dbSNP Id: rs754158477
• ExAC: 20:61981845 G / A
• gnomAD v2: 20-61981845-G-A
• gnomAD v3: 20-63350493-G-A
• gnomAD v4: 20-63350493-G-A
• MyVariant Identifiers: chr20:g.61981845G>A (hg19) ; chr20:g.63350493G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350493G>A , CM000682.2:g.63350493G>A	GRCh38
NC_000020.10:g.61981845G>A , CM000682.1:g.61981845G>A	GRCh37
NC_000020.9:g.61452289G>A	NCBI36
NG_011931.1:g.15851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.918C>T MANE Select	ENSP00000359285.4:p.Ile306=
ENST00000370263.8:c.918C>T	ENSP00000359285.4:p.Ile306=
ENST00000463705.5:n.1566C>T
ENST00000467563.3:n.988C>T
ENST00000498043.6:c.942C>T
ENST00000615287.4:c.705C>T	ENSP00000483388.1:p.Ile235=
ENST00000627000.1:c.*607C>T	ENSP00000486914.1:n.*607C>T
ENST00000630240.1:n.639C>T
NM_000744.6:c.918C>T	NP_000735.1:p.Ile306=
NM_001256573.1:c.390C>T	NP_001243502.1:p.Ile130=
NR_046317.1:n.1174C>T
XM_011528524.1:c.705C>T	XP_011526826.1:p.Ile235=
XM_017027625.2:c.390C>T	XP_016883114.1:p.Ile130=
XM_024451822.1:c.390C>T	XP_024307590.1:p.Ile130=
NM_001256573.2:c.390C>T	NP_001243502.1:p.Ile130=
NR_046317.2:n.1127C>T
NM_000744.7:c.918C>T MANE Select	NP_000735.1:p.Ile306=