Canonical Allele Identifier: CA16608492

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 381736
• ClinVar RCV Id: RCV000433542 ; RCV002062434
• dbSNP Id: rs1057521157
• gnomAD v4: 20-63350793-A-G
• MyVariant Identifiers: chr20:g.61982145A>G (hg19) ; chr20:g.63350793A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350793A>G , CM000682.2:g.63350793A>G	GRCh38
NC_000020.10:g.61982145A>G , CM000682.1:g.61982145A>G	GRCh37
NC_000020.9:g.61452589A>G	NCBI36
NG_011931.1:g.15551T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.618T>C MANE Select	ENSP00000359285.4:p.Ser206=
ENST00000370263.8:c.618T>C	ENSP00000359285.4:p.Ser206=
ENST00000463705.5:n.1266T>C
ENST00000467563.3:n.688T>C
ENST00000498043.6:c.642T>C
ENST00000615287.4:c.405T>C	ENSP00000483388.1:p.Ser135=
ENST00000627000.1:c.*307T>C	ENSP00000486914.1:n.*307T>C
ENST00000630240.1:n.339T>C
NM_000744.6:c.618T>C	NP_000735.1:p.Ser206=
NM_001256573.1:c.90T>C	NP_001243502.1:p.Ser30=
NR_046317.1:n.874T>C
XM_011528524.1:c.405T>C	XP_011526826.1:p.Ser135=
XM_017027625.2:c.90T>C	XP_016883114.1:p.Ser30=
XM_024451822.1:c.90T>C	XP_024307590.1:p.Ser30=
NM_001256573.2:c.90T>C	NP_001243502.1:p.Ser30=
NR_046317.2:n.827T>C
NM_000744.7:c.618T>C MANE Select	NP_000735.1:p.Ser206=