Canonical Allele Identifier: CA9957757

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 698805
• ClinVar RCV Id: RCV000866368 ; RCV002292590
• dbSNP Id: rs79068736
• ExAC: 20:61982094 G / A
• gnomAD v2: 20-61982094-G-A
• gnomAD v3: 20-63350742-G-A
• gnomAD v4: 20-63350742-G-A
• MyVariant Identifiers: chr20:g.61982094G>A (hg19) ; chr20:g.63350742G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350742G>A , CM000682.2:g.63350742G>A	GRCh38
NC_000020.10:g.61982094G>A , CM000682.1:g.61982094G>A	GRCh37
NC_000020.9:g.61452538G>A	NCBI36
NG_011931.1:g.15602C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.669C>T MANE Select	ENSP00000359285.4:p.Tyr223=
ENST00000370263.8:c.669C>T	ENSP00000359285.4:p.Tyr223=
ENST00000463705.5:n.1317C>T
ENST00000467563.3:n.739C>T
ENST00000498043.6:c.693C>T
ENST00000615287.4:c.456C>T	ENSP00000483388.1:p.Tyr152=
ENST00000627000.1:c.*358C>T	ENSP00000486914.1:n.*358C>T
ENST00000630240.1:n.390C>T
NM_000744.6:c.669C>T	NP_000735.1:p.Tyr223=
NM_001256573.1:c.141C>T	NP_001243502.1:p.Tyr47=
NR_046317.1:n.925C>T
XM_011528524.1:c.456C>T	XP_011526826.1:p.Tyr152=
XM_017027625.2:c.141C>T	XP_016883114.1:p.Tyr47=
XM_024451822.1:c.141C>T	XP_024307590.1:p.Tyr47=
NM_001256573.2:c.141C>T	NP_001243502.1:p.Tyr47=
NR_046317.2:n.878C>T
NM_000744.7:c.669C>T MANE Select	NP_000735.1:p.Tyr223=