Canonical Allele Identifier: CA511339147

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1658988
• ClinVar RCV Id: RCV002176079
• dbSNP Id: rs1813403521
• MyVariant Identifiers: chr20:g.61982127C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350775C>T , CM000682.2:g.63350775C>T	GRCh38
NC_000020.10:g.61982127C>T , CM000682.1:g.61982127C>T	GRCh37
NC_000020.9:g.61452571C>T	NCBI36
NG_011931.1:g.15569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.636G>A MANE Select	ENSP00000359285.4:p.Val212=
ENST00000370263.8:c.636G>A	ENSP00000359285.4:p.Val212=
ENST00000463705.5:n.1284G>A
ENST00000467563.3:n.706G>A
ENST00000498043.6:c.660G>A
ENST00000615287.4:c.423G>A	ENSP00000483388.1:p.Val141=
ENST00000627000.1:c.*325G>A	ENSP00000486914.1:n.*325G>A
ENST00000630240.1:n.357G>A
NM_000744.6:c.636G>A	NP_000735.1:p.Val212=
NM_001256573.1:c.108G>A	NP_001243502.1:p.Val36=
NR_046317.1:n.892G>A
XM_011528524.1:c.423G>A	XP_011526826.1:p.Val141=
XM_017027625.2:c.108G>A	XP_016883114.1:p.Val36=
XM_024451822.1:c.108G>A	XP_024307590.1:p.Val36=
NM_001256573.2:c.108G>A	NP_001243502.1:p.Val36=
NR_046317.2:n.845G>A
NM_000744.7:c.636G>A MANE Select	NP_000735.1:p.Val212=