Canonical Allele Identifier: CA351009410
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs1692017884
gnomAD v3: 2-232541519-C-G
gnomAD v4: 2-232541519-C-G
MyVariant Identifiers: chr2:g.233406229C>G (hg19) chr2:g.232541519C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541519C>G , CM000664.2:g.232541519C>G GRCh38
NC_000002.11:g.233406229C>G , CM000664.1:g.233406229C>G GRCh37
NC_000002.10:g.233114473C>G NCBI36
NG_012954.1:g.6793C>G
NG_012954.2:g.6828C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.496C>G MANE Select ENSP00000498757.1:p.Leu166Val
ENST00000389492.3:c.350+808C>G ENSP00000374143.3:n.350+808C>G
ENST00000389494.7:c.496C>G ENSP00000374145.3:p.Leu166Val
ENST00000485094.1:n.517C>G
NM_005199.4:c.496C>G NP_005190.4:p.Leu166Val
NM_005199.5:c.496C>G MANE Select NP_005190.4:p.Leu166Val
Search 100 bp 5'
Search 100 bp 3'