Canonical Allele Identifier: CA2168549

Gene: CHRNG

Linked Data

• ClinVar Variation Id: 335000
• ClinVar RCV Id: RCV000305721 ; RCV001094747 ; RCV003765948
• dbSNP Id: rs182635953
• ExAC: 2:233405082 C / T
• gnomAD v2: 2-233405082-C-T
• gnomAD v3: 2-232540372-C-T
• gnomAD v4: 2-232540372-C-T
• MyVariant Identifiers: chr2:g.233405082C>T (hg19) ; chr2:g.232540372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232540372C>T , CM000664.2:g.232540372C>T	GRCh38
NC_000002.11:g.233405082C>T , CM000664.1:g.233405082C>T	GRCh37
NC_000002.10:g.233113326C>T	NCBI36
NG_012954.1:g.5646C>T
NG_012954.2:g.5681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651502.1:c.196-9C>T MANE Select	ENSP00000498757.1:n.196-9C>T
ENST00000389492.3:c.196-9C>T	ENSP00000374143.3:n.196-9C>T
ENST00000389494.7:c.196-9C>T	ENSP00000374145.3:n.196-9C>T
ENST00000485094.1:n.217-9C>T
NM_005199.4:c.196-9C>T	NP_005190.4:n.196-9C>T
NM_005199.5:c.196-9C>T MANE Select	NP_005190.4:n.196-9C>T