Canonical Allele Identifier: CA245967

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 197691
• ClinVar RCV Id: RCV000178799 ; RCV001462536
• dbSNP Id: rs762952445
• ExAC: 20:61981895 G / A
• gnomAD v2: 20-61981895-G-A
• gnomAD v4: 20-63350543-G-A
• MyVariant Identifiers: chr20:g.61981895G>A (hg19) ; chr20:g.63350543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350543G>A , CM000682.2:g.63350543G>A	GRCh38
NC_000020.10:g.61981895G>A , CM000682.1:g.61981895G>A	GRCh37
NC_000020.9:g.61452339G>A	NCBI36
NG_011931.1:g.15801C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.868C>T MANE Select	ENSP00000359285.4:p.Leu290=
ENST00000370263.8:c.868C>T	ENSP00000359285.4:p.Leu290=
ENST00000463705.5:n.1516C>T
ENST00000467563.3:n.938C>T
ENST00000498043.6:c.892C>T
ENST00000615287.4:c.655C>T	ENSP00000483388.1:p.Leu219=
ENST00000627000.1:c.*557C>T	ENSP00000486914.1:n.*557C>T
ENST00000630240.1:n.589C>T
NM_000744.6:c.868C>T	NP_000735.1:p.Leu290=
NM_001256573.1:c.340C>T	NP_001243502.1:p.Leu114=
NR_046317.1:n.1124C>T
XM_011528524.1:c.655C>T	XP_011526826.1:p.Leu219=
XM_017027625.2:c.340C>T	XP_016883114.1:p.Leu114=
XM_024451822.1:c.340C>T	XP_024307590.1:p.Leu114=
NM_001256573.2:c.340C>T	NP_001243502.1:p.Leu114=
NR_046317.2:n.1077C>T
NM_000744.7:c.868C>T MANE Select	NP_000735.1:p.Leu290=