Canonical Allele Identifier: CA11140766
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 1290181
ClinVar RCV Id: RCV001716547
dbSNP Id: rs12996322
gnomAD v2: 2-233404590-G-C
gnomAD v3: 2-232539880-G-C
gnomAD v4: 2-232539880-G-C
MyVariant Identifiers: chr2:g.233404590G>C (hg19) chr2:g.232539880G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539880G>C , CM000664.2:g.232539880G>C GRCh38
NC_000002.11:g.233404590G>C , CM000664.1:g.233404590G>C GRCh37
NC_000002.10:g.233112834G>C NCBI36
NG_012954.1:g.5154G>C
NG_012954.2:g.5189G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.55+78G>C MANE Select ENSP00000498757.1:n.55+78G>C
ENST00000389492.3:c.55+78G>C ENSP00000374143.3:n.55+78G>C
ENST00000389494.7:c.55+78G>C ENSP00000374145.3:n.55+78G>C
ENST00000485094.1:n.76+78G>C
NM_005199.4:c.55+78G>C NP_005190.4:n.55+78G>C
NM_005199.5:c.55+78G>C MANE Select NP_005190.4:n.55+78G>C
Search 100 bp 5'
Search 100 bp 3'