Canonical Allele Identifier: CA9957580

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 477003
• ClinVar RCV Id: RCV000553736
• dbSNP Id: rs758693290
• ExAC: 20:61981236 G / A
• gnomAD v2: 20-61981236-G-A
• gnomAD v3: 20-63349884-G-A
• gnomAD v4: 20-63349884-G-A
• MyVariant Identifiers: chr20:g.61981236G>A (hg19) ; chr20:g.63349884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349884G>A , CM000682.2:g.63349884G>A	GRCh38
NC_000020.10:g.61981236G>A , CM000682.1:g.61981236G>A	GRCh37
NC_000020.9:g.61451680G>A	NCBI36
NG_011931.1:g.16460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1527C>T MANE Select	ENSP00000359285.4:p.Ala509=
ENST00000370263.8:c.1527C>T	ENSP00000359285.4:p.Ala509=
ENST00000463705.5:n.2175C>T
ENST00000467563.3:n.1597C>T
ENST00000498043.6:c.1551C>T
ENST00000615287.4:c.1314C>T	ENSP00000483388.1:p.Ala438=
ENST00000627000.1:c.*1216C>T	ENSP00000486914.1:n.*1216C>T
ENST00000630240.1:n.1248C>T
NM_000744.6:c.1527C>T	NP_000735.1:p.Ala509=
NM_001256573.1:c.999C>T	NP_001243502.1:p.Ala333=
NR_046317.1:n.1783C>T
XM_011528524.1:c.1314C>T	XP_011526826.1:p.Ala438=
XM_017027625.2:c.999C>T	XP_016883114.1:p.Ala333=
XM_024451822.1:c.999C>T	XP_024307590.1:p.Ala333=
NM_001256573.2:c.999C>T	NP_001243502.1:p.Ala333=
NR_046317.2:n.1736C>T
NM_000744.7:c.1527C>T MANE Select	NP_000735.1:p.Ala509=