Canonical Allele Identifier: CA2168672
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 335003
dbSNP Id: rs756232748

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541483G>A , CM000664.2:g.232541483G>A GRCh38
NC_000002.11:g.233406193G>A , CM000664.1:g.233406193G>A GRCh37
NC_000002.10:g.233114437G>A NCBI36
NG_012954.1:g.6757G>A
NG_012954.2:g.6792G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.460G>A MANE Select ENSP00000498757.1:p.Val154Ile
ENST00000389492.3:c.350+772G>A ENSP00000374143.3:n.350+772G>A
ENST00000389494.7:c.460G>A ENSP00000374145.3:p.Val154Ile
ENST00000485094.1:n.481G>A
NM_005199.4:c.460G>A NP_005190.4:p.Val154Ile
NM_005199.5:c.460G>A MANE Select NP_005190.4:p.Val154Ile