Canonical Allele Identifier: CA2168678
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs748609408
ExAC: 2:233406211 G / C
gnomAD v2: 2-233406211-G-C
gnomAD v3: 2-232541501-G-C
gnomAD v4: 2-232541501-G-C
MyVariant Identifiers: chr2:g.233406211G>C (hg19) chr2:g.232541501G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541501G>C , CM000664.2:g.232541501G>C GRCh38
NC_000002.11:g.233406211G>C , CM000664.1:g.233406211G>C GRCh37
NC_000002.10:g.233114455G>C NCBI36
NG_012954.1:g.6775G>C
NG_012954.2:g.6810G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.478G>C MANE Select ENSP00000498757.1:p.Asp160His
ENST00000389492.3:c.350+790G>C ENSP00000374143.3:n.350+790G>C
ENST00000389494.7:c.478G>C ENSP00000374145.3:p.Asp160His
ENST00000485094.1:n.499G>C
NM_005199.4:c.478G>C NP_005190.4:p.Asp160His
NM_005199.5:c.478G>C MANE Select NP_005190.4:p.Asp160His
Search 100 bp 5'
Search 100 bp 3'