Canonical Allele Identifier: CA2168775
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs765407839
ExAC: 2:233407703 G / A
gnomAD v2: 2-233407703-G-A
gnomAD v3: 2-232542993-G-A
gnomAD v4: 2-232542993-G-A
MyVariant Identifiers: chr2:g.233407703G>A (hg19) chr2:g.232542993G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232542993G>A , CM000664.2:g.232542993G>A GRCh38
NC_000002.11:g.233407703G>A , CM000664.1:g.233407703G>A GRCh37
NC_000002.10:g.233115947G>A NCBI36
NG_012954.1:g.8267G>A
NG_012954.2:g.8302G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651502.1:c.716G>A MANE Select ENSP00000498757.1:p.Arg239His
ENST00000389492.3:c.560G>A ENSP00000374143.3:p.Arg187His
ENST00000389494.7:c.716G>A ENSP00000374145.3:p.Arg239His
NM_005199.4:c.716G>A NP_005190.4:p.Arg239His
NM_005199.5:c.716G>A MANE Select NP_005190.4:p.Arg239His
Search 100 bp 5'
Search 100 bp 3'