Canonical Allele Identifier: CA409635281

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1030887
• ClinVar RCV Id: RCV001332572 ; RCV001361768
• dbSNP Id: rs1555837732
• gnomAD v4: 20-63350336-T-C
• MyVariant Identifiers: chr20:g.61981688T>C (hg19) ; chr20:g.63350336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350336T>C , CM000682.2:g.63350336T>C	GRCh38
NC_000020.10:g.61981688T>C , CM000682.1:g.61981688T>C	GRCh37
NC_000020.9:g.61452132T>C	NCBI36
NG_011931.1:g.16008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1075A>G MANE Select	ENSP00000359285.4:p.Lys359Glu
ENST00000370263.8:c.1075A>G	ENSP00000359285.4:p.Lys359Glu
ENST00000463705.5:n.1723A>G
ENST00000467563.3:n.1145A>G
ENST00000498043.6:c.1099A>G
ENST00000615287.4:c.862A>G	ENSP00000483388.1:p.Lys288Glu
ENST00000627000.1:c.*764A>G	ENSP00000486914.1:n.*764A>G
ENST00000630240.1:n.796A>G
NM_000744.6:c.1075A>G	NP_000735.1:p.Lys359Glu
NM_001256573.1:c.547A>G	NP_001243502.1:p.Lys183Glu
NR_046317.1:n.1331A>G
XM_011528524.1:c.862A>G	XP_011526826.1:p.Lys288Glu
XM_017027625.2:c.547A>G	XP_016883114.1:p.Lys183Glu
XM_024451822.1:c.547A>G	XP_024307590.1:p.Lys183Glu
NM_001256573.2:c.547A>G	NP_001243502.1:p.Lys183Glu
NR_046317.2:n.1284A>G
NM_000744.7:c.1075A>G MANE Select	NP_000735.1:p.Lys359Glu