Canonical Allele Identifier: CA2168516

Gene: CHRNG

Linked Data

• ClinVar Variation Id: 259665
• ClinVar RCV Id: RCV000249165 ; RCV000876382
• dbSNP Id: rs143153750
• ExAC: 2:233404790 G / A
• gnomAD v2: 2-233404790-G-A
• gnomAD v3: 2-232540080-G-A
• gnomAD v4: 2-232540080-G-A
• MyVariant Identifiers: chr2:g.233404790G>A (hg19) ; chr2:g.232540080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232540080G>A , CM000664.2:g.232540080G>A	GRCh38
NC_000002.11:g.233404790G>A , CM000664.1:g.233404790G>A	GRCh37
NC_000002.10:g.233113034G>A	NCBI36
NG_012954.1:g.5354G>A
NG_012954.2:g.5389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651502.1:c.144G>A MANE Select	ENSP00000498757.1:p.Ser48=
ENST00000389492.3:c.144G>A	ENSP00000374143.3:p.Ser48=
ENST00000389494.7:c.144G>A	ENSP00000374145.3:p.Ser48=
ENST00000485094.1:n.165G>A
NM_005199.4:c.144G>A	NP_005190.4:p.Ser48=
NM_005199.5:c.144G>A MANE Select	NP_005190.4:p.Ser48=