Canonical Allele Identifier: CA431810465
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 2987022
ClinVar RCV Id: RCV003848661
dbSNP Id: rs1692016692
gnomAD v3: 2-232541476-T-C
gnomAD v4: 2-232541476-T-C
MyVariant Identifiers: chr2:g.233406186T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541476T>C , CM000664.2:g.232541476T>C GRCh38
NC_000002.11:g.233406186T>C , CM000664.1:g.233406186T>C GRCh37
NC_000002.10:g.233114430T>C NCBI36
NG_012954.1:g.6750T>C
NG_012954.2:g.6785T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.453T>C MANE Select ENSP00000498757.1:p.Ser151=
ENST00000389492.3:c.350+765T>C ENSP00000374143.3:n.350+765T>C
ENST00000389494.7:c.453T>C ENSP00000374145.3:p.Ser151=
ENST00000485094.1:n.474T>C
NM_005199.4:c.453T>C NP_005190.4:p.Ser151=
NM_005199.5:c.453T>C MANE Select NP_005190.4:p.Ser151=
Search 100 bp 5'
Search 100 bp 3'