Canonical Allele Identifier: CA431810484
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 2861128
ClinVar RCV Id: RCV003697229
MyVariant Identifiers: chr2:g.233406201C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541491C>T , CM000664.2:g.232541491C>T GRCh38
NC_000002.11:g.233406201C>T , CM000664.1:g.233406201C>T GRCh37
NC_000002.10:g.233114445C>T NCBI36
NG_012954.1:g.6765C>T
NG_012954.2:g.6800C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.468C>T MANE Select ENSP00000498757.1:p.Tyr156=
ENST00000389492.3:c.350+780C>T ENSP00000374143.3:n.350+780C>T
ENST00000389494.7:c.468C>T ENSP00000374145.3:p.Tyr156=
ENST00000485094.1:n.489C>T
NM_005199.4:c.468C>T NP_005190.4:p.Tyr156=
NM_005199.5:c.468C>T MANE Select NP_005190.4:p.Tyr156=