Canonical Allele Identifier: CA1335316793
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 2716193
ClinVar RCV Id: RCV003546090
dbSNP Id: rs1692018123
gnomAD v4: 2-232541544-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541544T>G , CM000664.2:g.232541544T>G GRCh38
NC_000002.11:g.233406254T>G , CM000664.1:g.233406254T>G GRCh37
NC_000002.10:g.233114498T>G NCBI36
NG_012954.1:g.6818T>G
NG_012954.2:g.6853T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.506+15T>G MANE Select ENSP00000498757.1:n.506+15T>G
ENST00000389492.3:c.350+833T>G ENSP00000374143.3:n.350+833T>G
ENST00000389494.7:c.506+15T>G ENSP00000374145.3:n.506+15T>G
ENST00000485094.1:n.542T>G
NM_005199.4:c.506+15T>G NP_005190.4:n.506+15T>G
NM_005199.5:c.506+15T>G MANE Select NP_005190.4:n.506+15T>G
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