Canonical Allele Identifier: CA146970

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 93430
• ClinVar RCV Id: RCV000079316 ; RCV000576461 ; RCV001511256 ; RCV001711225 ; RCV002311570
• dbSNP Id: rs79739740
• ExAC: 20:61992467 C / T
• gnomAD v2: 20-61992467-C-T
• gnomAD v3: 20-63361115-C-T
• gnomAD v4: 20-63361115-C-T
• MyVariant Identifiers: chr20:g.61992467C>T (hg19) ; chr20:g.63361115C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63361115C>T , CM000682.2:g.63361115C>T	GRCh38
NC_000020.10:g.61992467C>T , CM000682.1:g.61992467C>T	GRCh37
NC_000020.9:g.61462911C>T	NCBI36
NG_011931.1:g.5229G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.51G>A MANE Select	ENSP00000359285.4:p.Leu17=
ENST00000675470.1:c.51G>A	ENSP00000502096.1:p.Leu17=
ENST00000370263.8:c.51G>A	ENSP00000359285.4:p.Leu17=
ENST00000463705.5:n.1032-10088G>A
ENST00000467563.3:n.128+62G>A
ENST00000615287.4:c.-263G>A	ENSP00000483388.1:n.-263G>A
ENST00000627000.1:c.51G>A	ENSP00000486914.1:p.Leu17=
ENST00000628606.1:n.51G>A
ENST00000628665.1:n.76G>A
NM_000744.6:c.51G>A	NP_000735.1:p.Leu17=
NM_001256573.1:c.-471+62G>A	NP_001243502.1:n.-471+62G>A
NR_046317.1:n.282G>A
NR_110634.1:n.183-703C>T
XM_017027625.2:c.-470-1416G>A	XP_016883114.1:n.-470-1416G>A
NM_001256573.2:c.-471+62G>A	NP_001243502.1:n.-471+62G>A
NR_046317.2:n.235G>A
NM_000744.7:c.51G>A MANE Select	NP_000735.1:p.Leu17=