Canonical Allele Identifier: CA431809444
Gene: CHRNG HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233404499G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539789G>C , CM000664.2:g.232539789G>C GRCh38
NC_000002.11:g.233404499G>C , CM000664.1:g.233404499G>C GRCh37
NC_000002.10:g.233112743G>C NCBI36
NG_012954.1:g.5063G>C
NG_012954.2:g.5098G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.42G>C MANE Select ENSP00000498757.1:p.Leu14=
ENST00000389492.3:c.42G>C ENSP00000374143.3:p.Leu14=
ENST00000389494.7:c.42G>C ENSP00000374145.3:p.Leu14=
ENST00000485094.1:n.63G>C
NM_005199.4:c.42G>C NP_005190.4:p.Leu14=
NM_005199.5:c.42G>C MANE Select NP_005190.4:p.Leu14=