Canonical Allele Identifier: CA1335316725
Gene: CHRNG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541417_232541418delinsGT , CM000664.2:g.232541417_232541418delinsGT GRCh38
NC_000002.11:g.233406127_233406128delinsGT , CM000664.1:g.233406127_233406128delinsGT GRCh37
NC_000002.10:g.233114371_233114372delinsGT NCBI36
NG_012954.1:g.6691_6692delinsGT
NG_012954.2:g.6726_6727delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.394_395delinsGT MANE Select ENSP00000498757.1:p.Val132=
ENST00000389492.3:c.350+706_350+707delinsGT ENSP00000374143.3:n.350+706_350+707delinsGT
ENST00000389494.7:c.394_395delinsGT ENSP00000374145.3:p.Val132=
ENST00000485094.1:n.415_416delinsGT
NM_005199.4:c.394_395delinsGT NP_005190.4:p.Val132=
NM_005199.5:c.394_395delinsGT MANE Select NP_005190.4:p.Val132=