Canonical Allele Identifier: CA2168674
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 259668
ClinVar RCV Id: RCV000254481 RCV000331018 RCV000874618 RCV001094714
dbSNP Id: rs143272752
ExAC: 2:233406204 C / T
gnomAD v2: 2-233406204-C-T
gnomAD v3: 2-232541494-C-T
gnomAD v4: 2-232541494-C-T
MyVariant Identifiers: chr2:g.233406204C>T (hg19) chr2:g.232541494C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541494C>T , CM000664.2:g.232541494C>T GRCh38
NC_000002.11:g.233406204C>T , CM000664.1:g.233406204C>T GRCh37
NC_000002.10:g.233114448C>T NCBI36
NG_012954.1:g.6768C>T
NG_012954.2:g.6803C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.471C>T MANE Select ENSP00000498757.1:p.Phe157=
ENST00000389492.3:c.350+783C>T ENSP00000374143.3:n.350+783C>T
ENST00000389494.7:c.471C>T ENSP00000374145.3:p.Phe157=
ENST00000485094.1:n.492C>T
NM_005199.4:c.471C>T NP_005190.4:p.Phe157=
NM_005199.5:c.471C>T MANE Select NP_005190.4:p.Phe157=
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