Canonical Allele Identifier: CA511338847

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1147789
• ClinVar RCV Id: RCV001487409
• dbSNP Id: rs2123472003
• gnomAD v4: 20-63350475-G-A
• MyVariant Identifiers: chr20:g.61981827G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350475G>A , CM000682.2:g.63350475G>A	GRCh38
NC_000020.10:g.61981827G>A , CM000682.1:g.61981827G>A	GRCh37
NC_000020.9:g.61452271G>A	NCBI36
NG_011931.1:g.15869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.936C>T MANE Select	ENSP00000359285.4:p.Phe312=
ENST00000370263.8:c.936C>T	ENSP00000359285.4:p.Phe312=
ENST00000463705.5:n.1584C>T
ENST00000467563.3:n.1006C>T
ENST00000498043.6:c.960C>T
ENST00000615287.4:c.723C>T	ENSP00000483388.1:p.Phe241=
ENST00000627000.1:c.*625C>T	ENSP00000486914.1:n.*625C>T
ENST00000630240.1:n.657C>T
NM_000744.6:c.936C>T	NP_000735.1:p.Phe312=
NM_001256573.1:c.408C>T	NP_001243502.1:p.Phe136=
NR_046317.1:n.1192C>T
XM_011528524.1:c.723C>T	XP_011526826.1:p.Phe241=
XM_017027625.2:c.408C>T	XP_016883114.1:p.Phe136=
XM_024451822.1:c.408C>T	XP_024307590.1:p.Phe136=
NM_001256573.2:c.408C>T	NP_001243502.1:p.Phe136=
NR_046317.2:n.1145C>T
NM_000744.7:c.936C>T MANE Select	NP_000735.1:p.Phe312=