Canonical Allele Identifier: CA9957794

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 416915
• ClinVar RCV Id: RCV000767315 ; RCV001087223 ; RCV002311796 ; RCV002496845
• dbSNP Id: rs200259564
• ExAC: 20:61982271 G / A
• gnomAD v2: 20-61982271-G-A
• gnomAD v3: 20-63350919-G-A
• gnomAD v4: 20-63350919-G-A
• MyVariant Identifiers: chr20:g.61982271G>A (hg19) ; chr20:g.63350919G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350919G>A , CM000682.2:g.63350919G>A	GRCh38
NC_000020.10:g.61982271G>A , CM000682.1:g.61982271G>A	GRCh37
NC_000020.9:g.61452715G>A	NCBI36
NG_011931.1:g.15425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.492C>T MANE Select	ENSP00000359285.4:p.Asp164=
ENST00000370263.8:c.492C>T	ENSP00000359285.4:p.Asp164=
ENST00000463705.5:n.1140C>T
ENST00000467563.3:n.562C>T
ENST00000498043.6:c.516C>T
ENST00000615287.4:c.279C>T	ENSP00000483388.1:p.Asp93=
ENST00000627000.1:c.*181C>T	ENSP00000486914.1:n.*181C>T
ENST00000628665.1:n.535C>T
ENST00000630240.1:n.213C>T
NM_000744.6:c.492C>T	NP_000735.1:p.Asp164=
NM_001256573.1:c.-37C>T	NP_001243502.1:n.-37C>T
NR_046317.1:n.748C>T
XM_011528524.1:c.279C>T	XP_011526826.1:p.Asp93=
XM_017027625.2:c.-37C>T	XP_016883114.1:n.-37C>T
XM_024451822.1:c.-37C>T	XP_024307590.1:n.-37C>T
NM_001256573.2:c.-37C>T	NP_001243502.1:n.-37C>T
NR_046317.2:n.701C>T
NM_000744.7:c.492C>T MANE Select	NP_000735.1:p.Asp164=