Canonical Allele Identifier: CA409637192

Gene: CHRNA4

Linked Data

• gnomAD v3: 20-63350734-C-A
• gnomAD v4: 20-63350734-C-A
• MyVariant Identifiers: chr20:g.61982086C>A (hg19) ; chr20:g.63350734C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350734C>A , CM000682.2:g.63350734C>A	GRCh38
NC_000020.10:g.61982086C>A , CM000682.1:g.61982086C>A	GRCh37
NC_000020.9:g.61452530C>A	NCBI36
NG_011931.1:g.15610G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.677G>T MANE Select	ENSP00000359285.4:p.Cys226Phe
ENST00000370263.8:c.677G>T	ENSP00000359285.4:p.Cys226Phe
ENST00000463705.5:n.1325G>T
ENST00000467563.3:n.747G>T
ENST00000498043.6:c.701G>T
ENST00000615287.4:c.464G>T	ENSP00000483388.1:p.Cys155Phe
ENST00000627000.1:c.*366G>T	ENSP00000486914.1:n.*366G>T
ENST00000630240.1:n.398G>T
NM_000744.6:c.677G>T	NP_000735.1:p.Cys226Phe
NM_001256573.1:c.149G>T	NP_001243502.1:p.Cys50Phe
NR_046317.1:n.933G>T
XM_011528524.1:c.464G>T	XP_011526826.1:p.Cys155Phe
XM_017027625.2:c.149G>T	XP_016883114.1:p.Cys50Phe
XM_024451822.1:c.149G>T	XP_024307590.1:p.Cys50Phe
NM_001256573.2:c.149G>T	NP_001243502.1:p.Cys50Phe
NR_046317.2:n.886G>T
NM_000744.7:c.677G>T MANE Select	NP_000735.1:p.Cys226Phe