Canonical Allele Identifier: CA2663621398

Gene: CHRNG

Linked Data

• gnomAD v4: 2-232539794-T-TCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232539798_232539801dup , CM000664.2:g.232539798_232539801dup	GRCh38
NC_000002.11:g.233404508_233404511dup , CM000664.1:g.233404508_233404511dup	GRCh37
NC_000002.10:g.233112752_233112755dup	NCBI36
NG_012954.1:g.5072_5075dup
NG_012954.2:g.5107_5110dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651502.1:c.51_54dup MANE Select	ENSP00000498757.1:p.Gly19ProfsTer?
ENST00000389492.3:c.51_54dup	ENSP00000374143.3:p.Gly19ProfsTer?
ENST00000389494.7:c.51_54dup	ENSP00000374145.3:p.Gly19ProfsTer?
ENST00000485094.1:n.72_75dup
NM_005199.4:c.51_54dup	NP_005190.4:p.Gly19ProfsTer?
NM_005199.5:c.51_54dup MANE Select	NP_005190.4:p.Gly19ProfsTer?