Canonical Allele Identifier: CA2168671
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 449338
ClinVar RCV Id: RCV000522117 RCV000778599 RCV000853328 RCV002265786
dbSNP Id: rs774279192
ExAC: 2:233406191 C / CA
gnomAD v2: 2-233406191-C-CA
gnomAD v3: 2-232541481-C-CA
gnomAD v4: 2-232541481-C-CA
MyVariant Identifiers: chr2:g.233406192dup (hg19) chr2:g.233406191_233406192insA (hg19) chr2:g.232541482dup (hg38) chr2:g.232541481_232541482insA (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.459dup MANE Select ENSP00000498757.1:p.Val154SerfsTer24
ENST00000389492.3:c.350+771dup ENSP00000374143.3:n.350+771dup
ENST00000389494.7:c.459dup ENSP00000374145.3:p.Val154SerfsTer24
ENST00000485094.1:n.480dup
NM_005199.4:c.459dup NP_005190.4:p.Val154SerfsTer24
NM_005199.5:c.459dup MANE Select NP_005190.4:p.Val154SerfsTer24
Search 100 bp 5'
Search 100 bp 3'