Canonical Allele Identifier: CA2168489

Gene: CHRNG

Linked Data

• ClinVar Variation Id: 334998
• ClinVar RCV Id: RCV000349383 ; RCV001094655
• dbSNP Id: rs753421728
• ExAC: 2:233404703 G / C
• gnomAD v2: 2-233404703-G-C
• gnomAD v3: 2-232539993-G-C
• gnomAD v4: 2-232539993-G-C
• MyVariant Identifiers: chr2:g.233404703G>C (hg19) ; chr2:g.232539993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232539993G>C , CM000664.2:g.232539993G>C	GRCh38
NC_000002.11:g.233404703G>C , CM000664.1:g.233404703G>C	GRCh37
NC_000002.10:g.233112947G>C	NCBI36
NG_012954.1:g.5267G>C
NG_012954.2:g.5302G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000651502.1:c.57G>C MANE Select	ENSP00000498757.1:p.Gly19=
ENST00000389492.3:c.57G>C	ENSP00000374143.3:p.Gly19=
ENST00000389494.7:c.57G>C	ENSP00000374145.3:p.Gly19=
ENST00000485094.1:n.78G>C
NM_005199.4:c.57G>C	NP_005190.4:p.Gly19=
NM_005199.5:c.57G>C MANE Select	NP_005190.4:p.Gly19=