Canonical Allele Identifier: CA201637
Gene: CHRNG HGNC NCBI
gnomAD v2:
2:233404759 A / AC
gnomAD v3:
2:232540049 A / AC
gnomAD v4:
chr2-232540049-A-AC
Joint Max Group AF 0.00018768 (AFR)
Genomes Max Group AF 0.00014899 (AFR)
Exomes Max Group AF 0.00016125 (AFR)
ClinVar Allele:
192400
ClinVar RCV:
RCV000374812
RCV000623652
RCV003223392
ClinVar Variation:
195239
dbSNP:
797044677
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232540053dup , CM000664.2:g.232540053dup GRCh38
NC_000002.11:g.233404763dup , CM000664.1:g.233404763dup GRCh37
NC_000002.10:g.233113007dup NCBI36
NG_012954.1:g.5327dup
NG_012954.2:g.5362dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.117dup MANE Select ENSP00000498757.1:p.Asn40GlnfsTer?
ENST00000389492.3:c.117dup ENSP00000374143.3:p.Asn40GlnfsTer?
ENST00000389494.7:c.117dup ENSP00000374145.3:p.Asn40GlnfsTer?
ENST00000485094.1:n.138dup
NM_005199.4:c.117dup NP_005190.4:p.Asn40GlnfsTer?
NM_005199.5:c.117dup MANE Select NP_005190.4:p.Asn40GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'