Canonical Allele Identifier: CA9957581

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 567594
• ClinVar RCV Id: RCV000687728 ; RCV002388209
• dbSNP Id: rs111286066
• ExAC: 20:61981241 C / T
• gnomAD v2: 20-61981241-C-T
• gnomAD v3: 20-63349889-C-T
• gnomAD v4: 20-63349889-C-T
• MyVariant Identifiers: chr20:g.61981241C>T (hg19) ; chr20:g.63349889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349889C>T , CM000682.2:g.63349889C>T	GRCh38
NC_000020.10:g.61981241C>T , CM000682.1:g.61981241C>T	GRCh37
NC_000020.9:g.61451685C>T	NCBI36
NG_011931.1:g.16455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1522G>A MANE Select	ENSP00000359285.4:p.Gly508Ser
ENST00000370263.8:c.1522G>A	ENSP00000359285.4:p.Gly508Ser
ENST00000463705.5:n.2170G>A
ENST00000467563.3:n.1592G>A
ENST00000498043.6:c.1546G>A
ENST00000615287.4:c.1309G>A	ENSP00000483388.1:p.Gly437Ser
ENST00000627000.1:c.*1211G>A	ENSP00000486914.1:n.*1211G>A
ENST00000630240.1:n.1243G>A
NM_000744.6:c.1522G>A	NP_000735.1:p.Gly508Ser
NM_001256573.1:c.994G>A	NP_001243502.1:p.Gly332Ser
NR_046317.1:n.1778G>A
XM_011528524.1:c.1309G>A	XP_011526826.1:p.Gly437Ser
XM_017027625.2:c.994G>A	XP_016883114.1:p.Gly332Ser
XM_024451822.1:c.994G>A	XP_024307590.1:p.Gly332Ser
NM_001256573.2:c.994G>A	NP_001243502.1:p.Gly332Ser
NR_046317.2:n.1731G>A
NM_000744.7:c.1522G>A MANE Select	NP_000735.1:p.Gly508Ser