Canonical Allele Identifier: CA636613711

Gene: CHRNA4

Linked Data

• dbSNP Id: rs1192255360
• gnomAD v2: 20-61982089-CACT-C
• gnomAD v3: 20-63350737-CACT-C
• gnomAD v4: 20-63350737-CACT-C
• MyVariant Identifiers: chr20:g.61982090_61982092del (hg19) ; chr20:g.63350738_63350740del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350738_63350740del , CM000682.2:g.63350738_63350740del	GRCh38
NC_000020.10:g.61982090_61982092del , CM000682.1:g.61982090_61982092del	GRCh37
NC_000020.9:g.61452534_61452536del	NCBI36
NG_011931.1:g.15604_15606del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.671_673del MANE Select	ENSP00000359285.4:p.Glu224_Cys225delinsGl...
ENST00000370263.8:c.671_673del	ENSP00000359285.4:p.Glu224_Cys225delinsGl...
ENST00000463705.5:n.1319_1321del
ENST00000467563.3:n.741_743del
ENST00000498043.6:c.695_697del
ENST00000615287.4:c.458_460del	ENSP00000483388.1:p.Glu153_Cys154delinsGl...
ENST00000627000.1:c.*360_*362del	ENSP00000486914.1:n.*360_*362del
ENST00000630240.1:n.392_394del
NM_000744.6:c.671_673del	NP_000735.1:p.Glu224_Cys225delinsGly
NM_001256573.1:c.143_145del	NP_001243502.1:p.Glu48_Cys49delinsGly
NR_046317.1:n.927_929del
XM_011528524.1:c.458_460del	XP_011526826.1:p.Glu153_Cys154delinsGly
XM_017027625.2:c.143_145del	XP_016883114.1:p.Glu48_Cys49delinsGly
XM_024451822.1:c.143_145del	XP_024307590.1:p.Glu48_Cys49delinsGly
NM_001256573.2:c.143_145del	NP_001243502.1:p.Glu48_Cys49delinsGly
NR_046317.2:n.880_882del
NM_000744.7:c.671_673del MANE Select	NP_000735.1:p.Glu224_Cys225delinsGly