Canonical Allele Identifier: CA409636203

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1351848
• ClinVar RCV Id: RCV002047153
• dbSNP Id: rs2123472055
• MyVariant Identifiers: chr20:g.61981850G>C (hg19) ; chr20:g.63350498G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350498G>C , CM000682.2:g.63350498G>C	GRCh38
NC_000020.10:g.61981850G>C , CM000682.1:g.61981850G>C	GRCh37
NC_000020.9:g.61452294G>C	NCBI36
NG_011931.1:g.15846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.913C>G MANE Select	ENSP00000359285.4:p.Leu305Val
ENST00000370263.8:c.913C>G	ENSP00000359285.4:p.Leu305Val
ENST00000463705.5:n.1561C>G
ENST00000467563.3:n.983C>G
ENST00000498043.6:c.937C>G
ENST00000615287.4:c.700C>G	ENSP00000483388.1:p.Leu234Val
ENST00000627000.1:c.*602C>G	ENSP00000486914.1:n.*602C>G
ENST00000630240.1:n.634C>G
NM_000744.6:c.913C>G	NP_000735.1:p.Leu305Val
NM_001256573.1:c.385C>G	NP_001243502.1:p.Leu129Val
NR_046317.1:n.1169C>G
XM_011528524.1:c.700C>G	XP_011526826.1:p.Leu234Val
XM_017027625.2:c.385C>G	XP_016883114.1:p.Leu129Val
XM_024451822.1:c.385C>G	XP_024307590.1:p.Leu129Val
NM_001256573.2:c.385C>G	NP_001243502.1:p.Leu129Val
NR_046317.2:n.1122C>G
NM_000744.7:c.913C>G MANE Select	NP_000735.1:p.Leu305Val