Canonical Allele Identifier: CA1043459195
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs1691980372
gnomAD v3: 2-232539987-T-C
gnomAD v4: 2-232539987-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539987T>C , CM000664.2:g.232539987T>C GRCh38
NC_000002.11:g.233404697T>C , CM000664.1:g.233404697T>C GRCh37
NC_000002.10:g.233112941T>C NCBI36
NG_012954.1:g.5261T>C
NG_012954.2:g.5296T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651502.1:c.56-5T>C MANE Select ENSP00000498757.1:n.56-5T>C
ENST00000389492.3:c.56-5T>C ENSP00000374143.3:n.56-5T>C
ENST00000389494.7:c.56-5T>C ENSP00000374145.3:n.56-5T>C
ENST00000485094.1:n.77-5T>C
NM_005199.4:c.56-5T>C NP_005190.4:n.56-5T>C
NM_005199.5:c.56-5T>C MANE Select NP_005190.4:n.56-5T>C
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