Canonical Allele Identifier: CA1335313777
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs1692009393
gnomAD v4: 2-232541264-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541264G>A , CM000664.2:g.232541264G>A GRCh38
NC_000002.11:g.233405974G>A , CM000664.1:g.233405974G>A GRCh37
NC_000002.10:g.233114218G>A NCBI36
NG_012954.1:g.6538G>A
NG_012954.2:g.6573G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.351-110G>A MANE Select ENSP00000498757.1:n.351-110G>A
ENST00000389492.3:c.350+553G>A ENSP00000374143.3:n.350+553G>A
ENST00000389494.7:c.351-110G>A ENSP00000374145.3:n.351-110G>A
ENST00000485094.1:n.372-110G>A
NM_005199.4:c.351-110G>A NP_005190.4:n.351-110G>A
NM_005199.5:c.351-110G>A MANE Select NP_005190.4:n.351-110G>A
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