Canonical Allele Identifier: CA1043460113
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs752677238
gnomAD v3: 2-232541559-G-A
gnomAD v4: 2-232541559-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541559G>A , CM000664.2:g.232541559G>A GRCh38
NC_000002.11:g.233406269G>A , CM000664.1:g.233406269G>A GRCh37
NC_000002.10:g.233114513G>A NCBI36
NG_012954.1:g.6833G>A
NG_012954.2:g.6868G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.506+30G>A MANE Select ENSP00000498757.1:n.506+30G>A
ENST00000389492.3:c.350+848G>A ENSP00000374143.3:n.350+848G>A
ENST00000389494.7:c.506+30G>A ENSP00000374145.3:n.506+30G>A
ENST00000485094.1:n.557G>A
NM_005199.4:c.506+30G>A NP_005190.4:n.506+30G>A
NM_005199.5:c.506+30G>A MANE Select NP_005190.4:n.506+30G>A
Search 100 bp 5'
Search 100 bp 3'