Canonical Allele Identifier: CA9957776

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 506628
• ClinVar RCV Id: RCV000615025 ; RCV001487368
• dbSNP Id: rs758128052
• ExAC: 20:61982196 G / A
• gnomAD v2: 20-61982196-G-A
• gnomAD v3: 20-63350844-G-A
• gnomAD v4: 20-63350844-G-A
• MyVariant Identifiers: chr20:g.61982196G>A (hg19) ; chr20:g.63350844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350844G>A , CM000682.2:g.63350844G>A	GRCh38
NC_000020.10:g.61982196G>A , CM000682.1:g.61982196G>A	GRCh37
NC_000020.9:g.61452640G>A	NCBI36
NG_011931.1:g.15500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.567C>T MANE Select	ENSP00000359285.4:p.Ile189=
ENST00000370263.8:c.567C>T	ENSP00000359285.4:p.Ile189=
ENST00000463705.5:n.1215C>T
ENST00000467563.3:n.637C>T
ENST00000498043.6:c.591C>T
ENST00000615287.4:c.354C>T	ENSP00000483388.1:p.Ile118=
ENST00000627000.1:c.*256C>T	ENSP00000486914.1:n.*256C>T
ENST00000630240.1:n.288C>T
NM_000744.6:c.567C>T	NP_000735.1:p.Ile189=
NM_001256573.1:c.39C>T	NP_001243502.1:p.Ile13=
NR_046317.1:n.823C>T
XM_011528524.1:c.354C>T	XP_011526826.1:p.Ile118=
XM_017027625.2:c.39C>T	XP_016883114.1:p.Ile13=
XM_024451822.1:c.39C>T	XP_024307590.1:p.Ile13=
NM_001256573.2:c.39C>T	NP_001243502.1:p.Ile13=
NR_046317.2:n.776C>T
NM_000744.7:c.567C>T MANE Select	NP_000735.1:p.Ile189=