Canonical Allele Identifier: CA511204301

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 2838702
• ClinVar RCV Id: RCV003747301
• MyVariant Identifiers: chr20:g.61981143C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349791C>T , CM000682.2:g.63349791C>T	GRCh38
NC_000020.10:g.61981143C>T , CM000682.1:g.61981143C>T	GRCh37
NC_000020.9:g.61451587C>T	NCBI36
NG_011931.1:g.16553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1620G>A MANE Select	ENSP00000359285.4:p.Val540=
ENST00000370263.8:c.1620G>A	ENSP00000359285.4:p.Val540=
ENST00000463705.5:n.2268G>A
ENST00000467563.3:n.1690G>A
ENST00000498043.6:c.1644G>A
ENST00000615287.4:c.1407G>A	ENSP00000483388.1:p.Val469=
ENST00000627000.1:c.*1309G>A	ENSP00000486914.1:n.*1309G>A
ENST00000630240.1:n.1341G>A
NM_000744.6:c.1620G>A	NP_000735.1:p.Val540=
NM_001256573.1:c.1092G>A	NP_001243502.1:p.Val364=
NR_046317.1:n.1876G>A
XM_011528524.1:c.1407G>A	XP_011526826.1:p.Val469=
XM_017027625.2:c.1092G>A	XP_016883114.1:p.Val364=
XM_024451822.1:c.1092G>A	XP_024307590.1:p.Val364=
NM_001256573.2:c.1092G>A	NP_001243502.1:p.Val364=
NR_046317.2:n.1829G>A
NM_000744.7:c.1620G>A MANE Select	NP_000735.1:p.Val540=