Canonical Allele Identifier: CA431810433
Gene: CHRNG HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233406171C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541461C>T , CM000664.2:g.232541461C>T GRCh38
NC_000002.11:g.233406171C>T , CM000664.1:g.233406171C>T GRCh37
NC_000002.10:g.233114415C>T NCBI36
NG_012954.1:g.6735C>T
NG_012954.2:g.6770C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.438C>T MANE Select ENSP00000498757.1:p.Phe146=
ENST00000389492.3:c.350+750C>T ENSP00000374143.3:n.350+750C>T
ENST00000389494.7:c.438C>T ENSP00000374145.3:p.Phe146=
ENST00000485094.1:n.459C>T
NM_005199.4:c.438C>T NP_005190.4:p.Phe146=
NM_005199.5:c.438C>T MANE Select NP_005190.4:p.Phe146=