Canonical Allele Identifier: CA2168642
Gene: CHRNG HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232541380C>T
GRCh37 chr2:g.233406090C>T
gnomAD v2:
2:233406090 C / T
gnomAD v3:
2:232541380 C / T
gnomAD v4:
chr2-232541380-C-T
Joint Max Group AF 0.00005788 (EAS)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.0000651 (EAS)
ClinVar Allele:
285958
ClinVar RCV:
RCV000265832
RCV001094610
RCV003765949
ClinVar Variation:
335001
dbSNP:
749995118
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541380C>T , CM000664.2:g.232541380C>T GRCh38
NC_000002.11:g.233406090C>T , CM000664.1:g.233406090C>T GRCh37
NC_000002.10:g.233114334C>T NCBI36
NG_012954.1:g.6654C>T
NG_012954.2:g.6689C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.357C>T MANE Select ENSP00000498757.1:p.Asp119=
ENST00000389492.3:c.350+669C>T ENSP00000374143.3:n.350+669C>T
ENST00000389494.7:c.357C>T ENSP00000374145.3:p.Asp119=
ENST00000485094.1:n.378C>T
NM_005199.4:c.357C>T NP_005190.4:p.Asp119=
NM_005199.5:c.357C>T MANE Select NP_005190.4:p.Asp119=
Search 100 bp 5'
Search 100 bp 3'