Canonical Allele Identifier: CA2697550595
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 2715704
ClinVar RCV Id: RCV003545855

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541549A>T , CM000664.2:g.232541549A>T GRCh38
NC_000002.11:g.233406259A>T , CM000664.1:g.233406259A>T GRCh37
NC_000002.10:g.233114503A>T NCBI36
NG_012954.1:g.6823A>T
NG_012954.2:g.6858A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.506+20A>T MANE Select ENSP00000498757.1:n.506+20A>T
ENST00000389492.3:c.350+838A>T ENSP00000374143.3:n.350+838A>T
ENST00000389494.7:c.506+20A>T ENSP00000374145.3:n.506+20A>T
ENST00000485094.1:n.547A>T
NM_005199.4:c.506+20A>T NP_005190.4:n.506+20A>T
NM_005199.5:c.506+20A>T MANE Select NP_005190.4:n.506+20A>T