Canonical Allele Identifier: CA9957791

Gene: CHRNA4

Linked Data

• dbSNP Id: rs776213268
• ExAC: 20:61982253 GAAGGGGAAGAAGGT / G
• gnomAD v2: 20-61982253-GAAGGGGAAGAAGGT-G
• MyVariant Identifiers: chr20:g.61982254_61982267del (hg19) ; chr20:g.63350902_63350915del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350902_63350915del , CM000682.2:g.63350902_63350915del	GRCh38
NC_000020.10:g.61982254_61982267del , CM000682.1:g.61982254_61982267del	GRCh37
NC_000020.9:g.61452698_61452711del	NCBI36
NG_011931.1:g.15429_15442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.496_509del MANE Select	ENSP00000359285.4:p.Thr166ArgfsTer?
ENST00000370263.8:c.496_509del	ENSP00000359285.4:p.Thr166ArgfsTer?
ENST00000463705.5:n.1144_1157del
ENST00000467563.3:n.566_579del
ENST00000498043.6:c.520_533del
ENST00000615287.4:c.283_296del	ENSP00000483388.1:p.Thr95ArgfsTer?
ENST00000627000.1:c.*185_*198del	ENSP00000486914.1:n.*185_*198del
ENST00000630240.1:n.217_230del
NM_000744.6:c.496_509del	NP_000735.1:p.Thr166ArgfsTer?
NM_001256573.1:c.-33_-20del	NP_001243502.1:n.-33_-20del
NR_046317.1:n.752_765del
XM_011528524.1:c.283_296del	XP_011526826.1:p.Thr95ArgfsTer?
XM_017027625.2:c.-33_-20del	XP_016883114.1:n.-33_-20del
XM_024451822.1:c.-33_-20del	XP_024307590.1:n.-33_-20del
NM_001256573.2:c.-33_-20del	NP_001243502.1:n.-33_-20del
NR_046317.2:n.705_718del
NM_000744.7:c.496_509del MANE Select	NP_000735.1:p.Thr166ArgfsTer?