Canonical Allele Identifier: CA431810524
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 2996857
ClinVar RCV Id: RCV003858992
dbSNP Id: rs1174500951
gnomAD v2: 2-233406225-C-T
gnomAD v3: 2-232541515-C-T
gnomAD v4: 2-232541515-C-T
COSMIC: COSM3049382
MyVariant Identifiers: chr2:g.233406225C>T (hg19) chr2:g.233406225_233406226delinsTT (hg19) chr2:g.232541515C>T (hg38) chr2:g.232541515_232541516delinsTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541515C>T , CM000664.2:g.232541515C>T GRCh38
NC_000002.11:g.233406225C>T , CM000664.1:g.233406225C>T GRCh37
NC_000002.10:g.233114469C>T NCBI36
NG_012954.1:g.6789C>T
NG_012954.2:g.6824C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.492C>T MANE Select ENSP00000498757.1:p.Cys164=
ENST00000389492.3:c.350+804C>T ENSP00000374143.3:n.350+804C>T
ENST00000389494.7:c.492C>T ENSP00000374145.3:p.Cys164=
ENST00000485094.1:n.513C>T
NM_005199.4:c.492C>T NP_005190.4:p.Cys164=
NM_005199.5:c.492C>T MANE Select NP_005190.4:p.Cys164=
Search 100 bp 5'
Search 100 bp 3'