Canonical Allele Identifier: CA9957793

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 411849
• ClinVar RCV Id: RCV000470888
• dbSNP Id: rs762764855
• ExAC: 20:61982270 C / T
• gnomAD v2: 20-61982270-C-T
• gnomAD v4: 20-63350918-C-T
• COSMIC: COSM1413086
• MyVariant Identifiers: chr20:g.61982270C>T (hg19) ; chr20:g.63350918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350918C>T , CM000682.2:g.63350918C>T	GRCh38
NC_000020.10:g.61982270C>T , CM000682.1:g.61982270C>T	GRCh37
NC_000020.9:g.61452714C>T	NCBI36
NG_011931.1:g.15426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.493G>A MANE Select	ENSP00000359285.4:p.Val165Ile
ENST00000370263.8:c.493G>A	ENSP00000359285.4:p.Val165Ile
ENST00000463705.5:n.1141G>A
ENST00000467563.3:n.563G>A
ENST00000498043.6:c.517G>A
ENST00000615287.4:c.280G>A	ENSP00000483388.1:p.Val94Ile
ENST00000627000.1:c.*182G>A	ENSP00000486914.1:n.*182G>A
ENST00000628665.1:n.536G>A
ENST00000630240.1:n.214G>A
NM_000744.6:c.493G>A	NP_000735.1:p.Val165Ile
NM_001256573.1:c.-36G>A	NP_001243502.1:n.-36G>A
NR_046317.1:n.749G>A
XM_011528524.1:c.280G>A	XP_011526826.1:p.Val94Ile
XM_017027625.2:c.-36G>A	XP_016883114.1:n.-36G>A
XM_024451822.1:c.-36G>A	XP_024307590.1:n.-36G>A
NM_001256573.2:c.-36G>A	NP_001243502.1:n.-36G>A
NR_046317.2:n.702G>A
NM_000744.7:c.493G>A MANE Select	NP_000735.1:p.Val165Ile