Canonical Allele Identifier: CA636613715

Gene: CHRNA4

Linked Data

• dbSNP Id: rs1435462782
• gnomAD v2: 20-61982096-ACT-A
• gnomAD v3: 20-63350744-ACT-A
• gnomAD v4: 20-63350744-ACT-A
• MyVariant Identifiers: chr20:g.61982097_61982098del (hg19) ; chr20:g.63350745_63350746del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350745_63350746del , CM000682.2:g.63350745_63350746del	GRCh38
NC_000020.10:g.61982097_61982098del , CM000682.1:g.61982097_61982098del	GRCh37
NC_000020.9:g.61452541_61452542del	NCBI36
NG_011931.1:g.15598_15599del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.665_666del MANE Select	ENSP00000359285.4:p.Lys222IlefsTer?
ENST00000370263.8:c.665_666del	ENSP00000359285.4:p.Lys222IlefsTer?
ENST00000463705.5:n.1313_1314del
ENST00000467563.3:n.735_736del
ENST00000498043.6:c.689_690del
ENST00000615287.4:c.452_453del	ENSP00000483388.1:p.Lys151IlefsTer?
ENST00000627000.1:c.*354_*355del	ENSP00000486914.1:n.*354_*355del
ENST00000630240.1:n.386_387del
NM_000744.6:c.665_666del	NP_000735.1:p.Lys222IlefsTer?
NM_001256573.1:c.137_138del	NP_001243502.1:p.Lys46IlefsTer?
NR_046317.1:n.921_922del
XM_011528524.1:c.452_453del	XP_011526826.1:p.Lys151IlefsTer?
XM_017027625.2:c.137_138del	XP_016883114.1:p.Lys46IlefsTer?
XM_024451822.1:c.137_138del	XP_024307590.1:p.Lys46IlefsTer?
NM_001256573.2:c.137_138del	NP_001243502.1:p.Lys46IlefsTer?
NR_046317.2:n.874_875del
NM_000744.7:c.665_666del MANE Select	NP_000735.1:p.Lys222IlefsTer?