Canonical Allele Identifier: CA431810472
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 2871674
ClinVar RCV Id: RCV003698633
dbSNP Id: rs1278380888
gnomAD v2: 2-233406192-A-C
gnomAD v3: 2-232541482-A-C
gnomAD v4: 2-232541482-A-C
MyVariant Identifiers: chr2:g.233406192A>C (hg19) chr2:g.232541482A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541482A>C , CM000664.2:g.232541482A>C GRCh38
NC_000002.11:g.233406192A>C , CM000664.1:g.233406192A>C GRCh37
NC_000002.10:g.233114436A>C NCBI36
NG_012954.1:g.6756A>C
NG_012954.2:g.6791A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.459A>C MANE Select ENSP00000498757.1:p.Ser153=
ENST00000389492.3:c.350+771A>C ENSP00000374143.3:n.350+771A>C
ENST00000389494.7:c.459A>C ENSP00000374145.3:p.Ser153=
ENST00000485094.1:n.480A>C
NM_005199.4:c.459A>C NP_005190.4:p.Ser153=
NM_005199.5:c.459A>C MANE Select NP_005190.4:p.Ser153=
Search 100 bp 5'
Search 100 bp 3'