Canonical Allele Identifier: CA2663621573
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 2724604
ClinVar RCV Id: RCV003561759
gnomAD v4: 2-232539972-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539972C>G , CM000664.2:g.232539972C>G GRCh38
NC_000002.11:g.233404682C>G , CM000664.1:g.233404682C>G GRCh37
NC_000002.10:g.233112926C>G NCBI36
NG_012954.1:g.5246C>G
NG_012954.2:g.5281C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000651502.1:c.56-20C>G MANE Select ENSP00000498757.1:n.56-20C>G
ENST00000389492.3:c.56-20C>G ENSP00000374143.3:n.56-20C>G
ENST00000389494.7:c.56-20C>G ENSP00000374145.3:n.56-20C>G
ENST00000485094.1:n.77-20C>G
NM_005199.4:c.56-20C>G NP_005190.4:n.56-20C>G
NM_005199.5:c.56-20C>G MANE Select NP_005190.4:n.56-20C>G
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