Canonical Allele Identifier: CA10614839
Gene: CHRNG HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232541497C>T
GRCh37 chr2:g.233406207C>T
gnomAD v4:
chr2-232541497-C-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar Allele:
288707
ClinVar RCV:
RCV000281764
RCV001094715
RCV003718210
ClinVar Variation:
335004
dbSNP:
145907618
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541497C>T , CM000664.2:g.232541497C>T GRCh38
NC_000002.11:g.233406207C>T , CM000664.1:g.233406207C>T GRCh37
NC_000002.10:g.233114451C>T NCBI36
NG_012954.1:g.6771C>T
NG_012954.2:g.6806C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.474C>T MANE Select ENSP00000498757.1:p.Pro158=
ENST00000389492.3:c.350+786C>T ENSP00000374143.3:n.350+786C>T
ENST00000389494.7:c.474C>T ENSP00000374145.3:p.Pro158=
ENST00000485094.1:n.495C>T
NM_005199.4:c.474C>T NP_005190.4:p.Pro158=
NM_005199.5:c.474C>T MANE Select NP_005190.4:p.Pro158=
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