Canonical Allele Identifier: CA66964224
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 2719687
ClinVar RCV Id: RCV003553727
dbSNP Id: rs371835418
gnomAD v3: 2-232539777-C-T
gnomAD v4: 2-232539777-C-T
MyVariant Identifiers: chr2:g.233404487C>T (hg19) chr2:g.232539777C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539777C>T , CM000664.2:g.232539777C>T GRCh38
NC_000002.11:g.233404487C>T , CM000664.1:g.233404487C>T GRCh37
NC_000002.10:g.233112731C>T NCBI36
NG_012954.1:g.5051C>T
NG_012954.2:g.5086C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.30C>T MANE Select ENSP00000498757.1:p.Leu10=
ENST00000389492.3:c.30C>T ENSP00000374143.3:p.Leu10=
ENST00000389494.7:c.30C>T ENSP00000374145.3:p.Leu10=
ENST00000485094.1:n.51C>T
NM_005199.4:c.30C>T NP_005190.4:p.Leu10=
NM_005199.5:c.30C>T MANE Select NP_005190.4:p.Leu10=
Search 100 bp 5'
Search 100 bp 3'