Canonical Allele Identifier: CA2168652

Gene: CHRNG

Linked Data

• ClinVar Variation Id: 419026
• ClinVar RCV Id: RCV000486079 ; RCV000498334 ; RCV001266730 ; RCV002496856 ; RCV003333071
• dbSNP Id: rs747067203
• ExAC: 2:233406133 CCT / C
• gnomAD v2: 2-233406133-CCT-C
• gnomAD v3: 2-232541423-CCT-C
• gnomAD v4: 2-232541423-CCT-C
• MyVariant Identifiers: chr2:g.233406134_233406135del (hg19) ; chr2:g.232541424_232541425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232541424_232541425del , CM000664.2:g.232541424_232541425del	GRCh38
NC_000002.11:g.233406134_233406135del , CM000664.1:g.233406134_233406135del	GRCh37
NC_000002.10:g.233114378_233114379del	NCBI36
NG_012954.1:g.6698_6699del
NG_012954.2:g.6733_6734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651502.1:c.401_402del MANE Select	ENSP00000498757.1:p.Pro134ArgfsTer?
ENST00000389492.3:c.350+713_350+714del	ENSP00000374143.3:n.350+713_350+714del
ENST00000389494.7:c.401_402del	ENSP00000374145.3:p.Pro134ArgfsTer?
ENST00000485094.1:n.422_423del
NM_005199.4:c.401_402del	NP_005190.4:p.Pro134ArgfsTer?
NM_005199.5:c.401_402del MANE Select	NP_005190.4:p.Pro134ArgfsTer?