Canonical Allele Identifier: CA511338677

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 2809443
• ClinVar RCV Id: RCV003746958
• gnomAD v4: 20-63349989-A-G
• MyVariant Identifiers: chr20:g.61981341A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349989A>G , CM000682.2:g.63349989A>G	GRCh38
NC_000020.10:g.61981341A>G , CM000682.1:g.61981341A>G	GRCh37
NC_000020.9:g.61451785A>G	NCBI36
NG_011931.1:g.16355T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.1422T>C MANE Select	ENSP00000359285.4:p.Pro474=
ENST00000370263.8:c.1422T>C	ENSP00000359285.4:p.Pro474=
ENST00000463705.5:n.2070T>C
ENST00000467563.3:n.1492T>C
ENST00000498043.6:c.1446T>C
ENST00000615287.4:c.1209T>C	ENSP00000483388.1:p.Pro403=
ENST00000627000.1:c.*1111T>C	ENSP00000486914.1:n.*1111T>C
ENST00000630240.1:n.1143T>C
NM_000744.6:c.1422T>C	NP_000735.1:p.Pro474=
NM_001256573.1:c.894T>C	NP_001243502.1:p.Pro298=
NR_046317.1:n.1678T>C
XM_011528524.1:c.1209T>C	XP_011526826.1:p.Pro403=
XM_017027625.2:c.894T>C	XP_016883114.1:p.Pro298=
XM_024451822.1:c.894T>C	XP_024307590.1:p.Pro298=
NM_001256573.2:c.894T>C	NP_001243502.1:p.Pro298=
NR_046317.2:n.1631T>C
NM_000744.7:c.1422T>C MANE Select	NP_000735.1:p.Pro474=