Canonical Allele Identifier: CA431810410
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 2795709
ClinVar RCV Id: RCV003667746
MyVariant Identifiers: chr2:g.233406162T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541452T>G , CM000664.2:g.232541452T>G GRCh38
NC_000002.11:g.233406162T>G , CM000664.1:g.233406162T>G GRCh37
NC_000002.10:g.233114406T>G NCBI36
NG_012954.1:g.6726T>G
NG_012954.2:g.6761T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.429T>G MANE Select ENSP00000498757.1:p.Pro143=
ENST00000389492.3:c.350+741T>G ENSP00000374143.3:n.350+741T>G
ENST00000389494.7:c.429T>G ENSP00000374145.3:p.Pro143=
ENST00000485094.1:n.450T>G
NM_005199.4:c.429T>G NP_005190.4:p.Pro143=
NM_005199.5:c.429T>G MANE Select NP_005190.4:p.Pro143=
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