Canonical Allele Identifier: CA766141229
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 2727706
ClinVar RCV Id: RCV003557264
dbSNP Id: rs1417862757
gnomAD v3: 2-232539809-C-G
gnomAD v4: 2-232539809-C-G
MyVariant Identifiers: chr2:g.233404519C>G (hg19) chr2:g.232539809C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539809C>G , CM000664.2:g.232539809C>G GRCh38
NC_000002.11:g.233404519C>G , CM000664.1:g.233404519C>G GRCh37
NC_000002.10:g.233112763C>G NCBI36
NG_012954.1:g.5083C>G
NG_012954.2:g.5118C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.55+7C>G MANE Select ENSP00000498757.1:n.55+7C>G
ENST00000389492.3:c.55+7C>G ENSP00000374143.3:n.55+7C>G
ENST00000389494.7:c.55+7C>G ENSP00000374145.3:n.55+7C>G
ENST00000485094.1:n.76+7C>G
NM_005199.4:c.55+7C>G NP_005190.4:n.55+7C>G
NM_005199.5:c.55+7C>G MANE Select NP_005190.4:n.55+7C>G
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