Canonical Allele Identifier: CA313609

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 205045
• ClinVar RCV Id: RCV002433834
• dbSNP Id: rs143103435
• ExAC: 20:61987414 C / T
• gnomAD v2: 20-61987414-C-T
• gnomAD v3: 20-63356062-C-T
• gnomAD v4: 20-63356062-C-T
• MyVariant Identifiers: chr20:g.61987414C>T (hg19) ; chr20:g.63356062C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63356062C>T , CM000682.2:g.63356062C>T	GRCh38
NC_000020.10:g.61987414C>T , CM000682.1:g.61987414C>T	GRCh37
NC_000020.9:g.61457858C>T	NCBI36
NG_011931.1:g.10282G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.296G>A MANE Select	ENSP00000359285.4:p.Arg99His
ENST00000636652.1:n.9G>A
ENST00000370263.8:c.296G>A	ENSP00000359285.4:p.Arg99His
ENST00000463705.5:n.1032-5035G>A
ENST00000467563.3:n.348G>A
ENST00000498043.6:c.220G>A
ENST00000615287.4:c.-18G>A	ENSP00000483388.1:n.-18G>A
ENST00000627000.1:c.321G>A	ENSP00000486914.1:p.Ala107=
ENST00000627869.1:n.77G>A
ENST00000628665.1:n.321G>A
NM_000744.6:c.296G>A	NP_000735.1:p.Arg99His
NM_001256573.1:c.-251G>A	NP_001243502.1:n.-251G>A
NR_046317.1:n.552G>A
XM_011528524.1:c.-18G>A	XP_011526826.1:n.-18G>A
XM_017027625.2:c.-251G>A	XP_016883114.1:n.-251G>A
NM_001256573.2:c.-251G>A	NP_001243502.1:n.-251G>A
NR_046317.2:n.505G>A
NM_000744.7:c.296G>A MANE Select	NP_000735.1:p.Arg99His