Canonical Allele Identifier: CA317431708

Gene: CHRNA4

Linked Data

• dbSNP Id: rs201021732
• gnomAD v4: 20-63349763-T-C
• MyVariant Identifiers: chr20:g.61981115T>C (hg19) ; chr20:g.63349763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349763T>C , CM000682.2:g.63349763T>C	GRCh38
NC_000020.10:g.61981115T>C , CM000682.1:g.61981115T>C	GRCh37
NC_000020.9:g.61451559T>C	NCBI36
NG_011931.1:g.16581A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.1648A>G MANE Select	ENSP00000359285.4:p.Ser550Gly
ENST00000370263.8:c.1648A>G	ENSP00000359285.4:p.Ser550Gly
ENST00000463705.5:n.2296A>G
ENST00000467563.3:n.1718A>G
ENST00000498043.6:c.1672A>G
ENST00000615287.4:c.1435A>G	ENSP00000483388.1:p.Ser479Gly
ENST00000627000.1:c.*1337A>G	ENSP00000486914.1:n.*1337A>G
ENST00000630240.1:n.1369A>G
NM_000744.6:c.1648A>G	NP_000735.1:p.Ser550Gly
NM_001256573.1:c.1120A>G	NP_001243502.1:p.Ser374Gly
NR_046317.1:n.1904A>G
XM_011528524.1:c.1435A>G	XP_011526826.1:p.Ser479Gly
XM_017027625.2:c.1120A>G	XP_016883114.1:p.Ser374Gly
XM_024451822.1:c.1120A>G	XP_024307590.1:p.Ser374Gly
NM_001256573.2:c.1120A>G	NP_001243502.1:p.Ser374Gly
NR_046317.2:n.1857A>G
NM_000744.7:c.1648A>G MANE Select	NP_000735.1:p.Ser550Gly