Canonical Allele Identifier: CA317436287

Gene: CHRNA4

Linked Data

• dbSNP Id: rs553582391
• gnomAD v2: 20-61982212-T-C
• gnomAD v3: 20-63350860-T-C
• gnomAD v4: 20-63350860-T-C
• MyVariant Identifiers: chr20:g.61982212T>C (hg19) ; chr20:g.63350860T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350860T>C , CM000682.2:g.63350860T>C	GRCh38
NC_000020.10:g.61982212T>C , CM000682.1:g.61982212T>C	GRCh37
NC_000020.9:g.61452656T>C	NCBI36
NG_011931.1:g.15484A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.551A>G MANE Select	ENSP00000359285.4:p.Tyr184Cys
ENST00000370263.8:c.551A>G	ENSP00000359285.4:p.Tyr184Cys
ENST00000463705.5:n.1199A>G
ENST00000467563.3:n.621A>G
ENST00000498043.6:c.575A>G
ENST00000615287.4:c.338A>G	ENSP00000483388.1:p.Tyr113Cys
ENST00000627000.1:c.*240A>G	ENSP00000486914.1:n.*240A>G
ENST00000630240.1:n.272A>G
NM_000744.6:c.551A>G	NP_000735.1:p.Tyr184Cys
NM_001256573.1:c.23A>G	NP_001243502.1:p.Tyr8Cys
NR_046317.1:n.807A>G
XM_011528524.1:c.338A>G	XP_011526826.1:p.Tyr113Cys
XM_017027625.2:c.23A>G	XP_016883114.1:p.Tyr8Cys
XM_024451822.1:c.23A>G	XP_024307590.1:p.Tyr8Cys
NM_001256573.2:c.23A>G	NP_001243502.1:p.Tyr8Cys
NR_046317.2:n.760A>G
NM_000744.7:c.551A>G MANE Select	NP_000735.1:p.Tyr184Cys