Canonical Allele Identifier: CA2168670

Gene: CHRNG

Linked Data

• ClinVar Variation Id: 259667
• ClinVar RCV Id: RCV000249476 ; RCV000271778 ; RCV000342579 ; RCV001094660 ; RCV001640534
• dbSNP Id: rs2289080
• ExAC: 2:233406178 G / A
• gnomAD v2: 2-233406178-G-A
• gnomAD v3: 2-232541468-G-A
• gnomAD v4: 2-232541468-G-A
• MyVariant Identifiers: chr2:g.233406178G>A (hg19) ; chr2:g.232541468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232541468G>A , CM000664.2:g.232541468G>A	GRCh38
NC_000002.11:g.233406178G>A , CM000664.1:g.233406178G>A	GRCh37
NC_000002.10:g.233114422G>A	NCBI36
NG_012954.1:g.6742G>A
NG_012954.2:g.6777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651502.1:c.445G>A MANE Select	ENSP00000498757.1:p.Ala149Thr
ENST00000389492.3:c.350+757G>A	ENSP00000374143.3:n.350+757G>A
ENST00000389494.7:c.445G>A	ENSP00000374145.3:p.Ala149Thr
ENST00000485094.1:n.466G>A
NM_005199.4:c.445G>A	NP_005190.4:p.Ala149Thr
NM_005199.5:c.445G>A MANE Select	NP_005190.4:p.Ala149Thr