Canonical Allele Identifier: CA313571

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 205026
• ClinVar RCV Id: RCV000477908 ; RCV000186942 ; RCV001087701 ; RCV002381623
• dbSNP Id: rs796052318
• gnomAD v2: 20-61981447-T-G
• gnomAD v3: 20-63350095-T-G
• gnomAD v4: 20-63350095-T-G
• MyVariant Identifiers: chr20:g.61981447T>G (hg19) ; chr20:g.63350095T>G (hg38)
• PubMed: PMID:9339675 ; PMID:20016990

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350095T>G , CM000682.2:g.63350095T>G	GRCh38
NC_000020.10:g.61981447T>G , CM000682.1:g.61981447T>G	GRCh37
NC_000020.9:g.61451891T>G	NCBI36
NG_011931.1:g.16249A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1316A>C MANE Select	ENSP00000359285.4:p.Lys439Thr
ENST00000370263.8:c.1316A>C	ENSP00000359285.4:p.Lys439Thr
ENST00000463705.5:n.1964A>C
ENST00000467563.3:n.1386A>C
ENST00000498043.6:c.1340A>C
ENST00000615287.4:c.1103A>C	ENSP00000483388.1:p.Lys368Thr
ENST00000627000.1:c.*1005A>C	ENSP00000486914.1:n.*1005A>C
ENST00000630240.1:n.1037A>C
NM_000744.6:c.1316A>C	NP_000735.1:p.Lys439Thr
NM_001256573.1:c.788A>C	NP_001243502.1:p.Lys263Thr
NR_046317.1:n.1572A>C
XM_011528524.1:c.1103A>C	XP_011526826.1:p.Lys368Thr
XM_017027625.2:c.788A>C	XP_016883114.1:p.Lys263Thr
XM_024451822.1:c.788A>C	XP_024307590.1:p.Lys263Thr
NM_001256573.2:c.788A>C	NP_001243502.1:p.Lys263Thr
NR_046317.2:n.1525A>C
NM_000744.7:c.1316A>C MANE Select	NP_000735.1:p.Lys439Thr