Canonical Allele Identifier: CA2663623446
Gene: CHRNG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541497del , CM000664.2:g.232541497del GRCh38
NC_000002.11:g.233406207del , CM000664.1:g.233406207del GRCh37
NC_000002.10:g.233114451del NCBI36
NG_012954.1:g.6771del
NG_012954.2:g.6806del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.474del MANE Select ENSP00000498757.1:p.Phe159SerfsTer24
ENST00000389492.3:c.350+786del ENSP00000374143.3:n.350+786del
ENST00000389494.7:c.474del ENSP00000374145.3:p.Phe159SerfsTer24
ENST00000485094.1:n.495del
NM_005199.4:c.474del NP_005190.4:p.Phe159SerfsTer24
NM_005199.5:c.474del MANE Select NP_005190.4:p.Phe159SerfsTer24