Canonical Allele Identifier: CA409635368

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 2919633
• ClinVar RCV Id: RCV003747671
• dbSNP Id: rs2068572122
• MyVariant Identifiers: chr20:g.61981712T>C (hg19) ; chr20:g.63350360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350360T>C , CM000682.2:g.63350360T>C	GRCh38
NC_000020.10:g.61981712T>C , CM000682.1:g.61981712T>C	GRCh37
NC_000020.9:g.61452156T>C	NCBI36
NG_011931.1:g.15984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1051A>G MANE Select	ENSP00000359285.4:p.Ile351Val
ENST00000370263.8:c.1051A>G	ENSP00000359285.4:p.Ile351Val
ENST00000463705.5:n.1699A>G
ENST00000467563.3:n.1121A>G
ENST00000498043.6:c.1075A>G
ENST00000615287.4:c.838A>G	ENSP00000483388.1:p.Ile280Val
ENST00000627000.1:c.*740A>G	ENSP00000486914.1:n.*740A>G
ENST00000630240.1:n.772A>G
NM_000744.6:c.1051A>G	NP_000735.1:p.Ile351Val
NM_001256573.1:c.523A>G	NP_001243502.1:p.Ile175Val
NR_046317.1:n.1307A>G
XM_011528524.1:c.838A>G	XP_011526826.1:p.Ile280Val
XM_017027625.2:c.523A>G	XP_016883114.1:p.Ile175Val
XM_024451822.1:c.523A>G	XP_024307590.1:p.Ile175Val
NM_001256573.2:c.523A>G	NP_001243502.1:p.Ile175Val
NR_046317.2:n.1260A>G
NM_000744.7:c.1051A>G MANE Select	NP_000735.1:p.Ile351Val