Canonical Allele Identifier: CA351009003
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 896328
ClinVar RCV Id: RCV001138916 RCV001138915
dbSNP Id: rs144323121
gnomAD v4: 2-232541463-G-T
MyVariant Identifiers: chr2:g.233406173G>T (hg19) chr2:g.232541463G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541463G>T , CM000664.2:g.232541463G>T GRCh38
NC_000002.11:g.233406173G>T , CM000664.1:g.233406173G>T GRCh37
NC_000002.10:g.233114417G>T NCBI36
NG_012954.1:g.6737G>T
NG_012954.2:g.6772G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.440G>T MANE Select ENSP00000498757.1:p.Arg147Leu
ENST00000389492.3:c.350+752G>T ENSP00000374143.3:n.350+752G>T
ENST00000389494.7:c.440G>T ENSP00000374145.3:p.Arg147Leu
ENST00000485094.1:n.461G>T
NM_005199.4:c.440G>T NP_005190.4:p.Arg147Leu
NM_005199.5:c.440G>T MANE Select NP_005190.4:p.Arg147Leu
Search 100 bp 5'
Search 100 bp 3'