Canonical Allele Identifier: CA313547

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 205015
• ClinVar RCV Id: RCV001034147 ; RCV001711474 ; RCV002513982 ; RCV004525894
• dbSNP Id: rs200197645
• ExAC: 20:61982203 G / C
• gnomAD v2: 20-61982203-G-C
• gnomAD v3: 20-63350851-G-C
• gnomAD v4: 20-63350851-G-C
• MyVariant Identifiers: chr20:g.61982203G>C (hg19) ; chr20:g.63350851G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350851G>C , CM000682.2:g.63350851G>C	GRCh38
NC_000020.10:g.61982203G>C , CM000682.1:g.61982203G>C	GRCh37
NC_000020.9:g.61452647G>C	NCBI36
NG_011931.1:g.15493C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.560C>G MANE Select	ENSP00000359285.4:p.Ala187Gly
ENST00000370263.8:c.560C>G	ENSP00000359285.4:p.Ala187Gly
ENST00000463705.5:n.1208C>G
ENST00000467563.3:n.630C>G
ENST00000498043.6:c.584C>G
ENST00000615287.4:c.347C>G	ENSP00000483388.1:p.Ala116Gly
ENST00000627000.1:c.*249C>G	ENSP00000486914.1:n.*249C>G
ENST00000630240.1:n.281C>G
NM_000744.6:c.560C>G	NP_000735.1:p.Ala187Gly
NM_001256573.1:c.32C>G	NP_001243502.1:p.Ala11Gly
NR_046317.1:n.816C>G
XM_011528524.1:c.347C>G	XP_011526826.1:p.Ala116Gly
XM_017027625.2:c.32C>G	XP_016883114.1:p.Ala11Gly
XM_024451822.1:c.32C>G	XP_024307590.1:p.Ala11Gly
NM_001256573.2:c.32C>G	NP_001243502.1:p.Ala11Gly
NR_046317.2:n.769C>G
NM_000744.7:c.560C>G MANE Select	NP_000735.1:p.Ala187Gly