Canonical Allele Identifier: CA9957564

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1100132
• ClinVar RCV Id: RCV001422648
• dbSNP Id: rs764393796
• ExAC: 20:61981137 C / T
• gnomAD v2: 20-61981137-C-T
• gnomAD v3: 20-63349785-C-T
• gnomAD v4: 20-63349785-C-T
• MyVariant Identifiers: chr20:g.61981137C>T (hg19) ; chr20:g.63349785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349785C>T , CM000682.2:g.63349785C>T	GRCh38
NC_000020.10:g.61981137C>T , CM000682.1:g.61981137C>T	GRCh37
NC_000020.9:g.61451581C>T	NCBI36
NG_011931.1:g.16559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1626G>A MANE Select	ENSP00000359285.4:p.Pro542=
ENST00000370263.8:c.1626G>A	ENSP00000359285.4:p.Pro542=
ENST00000463705.5:n.2274G>A
ENST00000467563.3:n.1696G>A
ENST00000498043.6:c.1650G>A
ENST00000615287.4:c.1413G>A	ENSP00000483388.1:p.Pro471=
ENST00000627000.1:c.*1315G>A	ENSP00000486914.1:n.*1315G>A
ENST00000630240.1:n.1347G>A
NM_000744.6:c.1626G>A	NP_000735.1:p.Pro542=
NM_001256573.1:c.1098G>A	NP_001243502.1:p.Pro366=
NR_046317.1:n.1882G>A
XM_011528524.1:c.1413G>A	XP_011526826.1:p.Pro471=
XM_017027625.2:c.1098G>A	XP_016883114.1:p.Pro366=
XM_024451822.1:c.1098G>A	XP_024307590.1:p.Pro366=
NM_001256573.2:c.1098G>A	NP_001243502.1:p.Pro366=
NR_046317.2:n.1835G>A
NM_000744.7:c.1626G>A MANE Select	NP_000735.1:p.Pro542=