Canonical Allele Identifier: CA9957733

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1349519
• ClinVar RCV Id: RCV002046984
• dbSNP Id: rs776882201
• ExAC: 20:61982012 T / C
• gnomAD v2: 20-61982012-T-C
• gnomAD v4: 20-63350660-T-C
• MyVariant Identifiers: chr20:g.61982012T>C (hg19) ; chr20:g.63350660T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350660T>C , CM000682.2:g.63350660T>C	GRCh38
NC_000020.10:g.61982012T>C , CM000682.1:g.61982012T>C	GRCh37
NC_000020.9:g.61452456T>C	NCBI36
NG_011931.1:g.15684A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.751A>G MANE Select	ENSP00000359285.4:p.Ile251Val
ENST00000370263.8:c.751A>G	ENSP00000359285.4:p.Ile251Val
ENST00000463705.5:n.1399A>G
ENST00000467563.3:n.821A>G
ENST00000498043.6:c.775A>G
ENST00000615287.4:c.538A>G	ENSP00000483388.1:p.Ile180Val
ENST00000627000.1:c.*440A>G	ENSP00000486914.1:n.*440A>G
ENST00000630240.1:n.472A>G
NM_000744.6:c.751A>G	NP_000735.1:p.Ile251Val
NM_001256573.1:c.223A>G	NP_001243502.1:p.Ile75Val
NR_046317.1:n.1007A>G
XM_011528524.1:c.538A>G	XP_011526826.1:p.Ile180Val
XM_017027625.2:c.223A>G	XP_016883114.1:p.Ile75Val
XM_024451822.1:c.223A>G	XP_024307590.1:p.Ile75Val
NM_001256573.2:c.223A>G	NP_001243502.1:p.Ile75Val
NR_046317.2:n.960A>G
NM_000744.7:c.751A>G MANE Select	NP_000735.1:p.Ile251Val