Canonical Allele Identifier: CA645519421
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs2106219626
gnomAD v4: 2-232539777-CCTG-C
COSMIC: COSM5862012
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539787_232539789del , CM000664.2:g.232539787_232539789del GRCh38
NC_000002.11:g.233404497_233404499del , CM000664.1:g.233404497_233404499del GRCh37
NC_000002.10:g.233112741_233112743del NCBI36
NG_012954.1:g.5061_5063del
NG_012954.2:g.5096_5098del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.40_42del MANE Select ENSP00000498757.1:p.Leu14del
ENST00000389492.3:c.40_42del ENSP00000374143.3:p.Leu14del
ENST00000389494.7:c.40_42del ENSP00000374145.3:p.Leu14del
ENST00000485094.1:n.61_63del
NM_005199.4:c.40_42del NP_005190.4:p.Leu14del
NM_005199.5:c.40_42del MANE Select NP_005190.4:p.Leu14del
Search 100 bp 5'
Search 100 bp 3'