Canonical Allele Identifier: CA511338959

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 2053500
• ClinVar RCV Id: RCV002922552
• dbSNP Id: rs1391598719
• gnomAD v3: 20-63350538-G-A
• gnomAD v4: 20-63350538-G-A
• MyVariant Identifiers: chr20:g.61981890G>A (hg19) ; chr20:g.63350538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350538G>A , CM000682.2:g.63350538G>A	GRCh38
NC_000020.10:g.61981890G>A , CM000682.1:g.61981890G>A	GRCh37
NC_000020.9:g.61452334G>A	NCBI36
NG_011931.1:g.15806C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.873C>T MANE Select	ENSP00000359285.4:p.Leu291=
ENST00000370263.8:c.873C>T	ENSP00000359285.4:p.Leu291=
ENST00000463705.5:n.1521C>T
ENST00000467563.3:n.943C>T
ENST00000498043.6:c.897C>T
ENST00000615287.4:c.660C>T	ENSP00000483388.1:p.Leu220=
ENST00000627000.1:c.*562C>T	ENSP00000486914.1:n.*562C>T
ENST00000630240.1:n.594C>T
NM_000744.6:c.873C>T	NP_000735.1:p.Leu291=
NM_001256573.1:c.345C>T	NP_001243502.1:p.Leu115=
NR_046317.1:n.1129C>T
XM_011528524.1:c.660C>T	XP_011526826.1:p.Leu220=
XM_017027625.2:c.345C>T	XP_016883114.1:p.Leu115=
XM_024451822.1:c.345C>T	XP_024307590.1:p.Leu115=
NM_001256573.2:c.345C>T	NP_001243502.1:p.Leu115=
NR_046317.2:n.1082C>T
NM_000744.7:c.873C>T MANE Select	NP_000735.1:p.Leu291=