Canonical Allele Identifier: CA174880
Gene: FAM83C HGNC NCBI

Linked Data

ClinVar Variation Id: 161837
ClinVar RCV Id: RCV000149373
dbSNP Id: rs193920940
ExAC: 20:33875719 C / T
gnomAD v2: 20-33875719-C-T
gnomAD v3: 20-35287916-C-T
gnomAD v4: 20-35287916-C-T
COSMIC: COSM1178723
MyVariant Identifiers: chr20:g.33875719C>T (hg19) chr20:g.35287916C>T (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35287916C>T , CM000682.2:g.35287916C>T GRCh38
NC_000020.10:g.33875719C>T , CM000682.1:g.33875719C>T GRCh37
NC_000020.9:g.33339133C>T NCBI36
NG_023238.1:g.1876G>A
NG_053068.1:g.9507G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374408.4:c.863G>A MANE Select ENSP00000363529.3:p.Arg288His
ENST00000374408.3:c.863G>A ENSP00000363529.3:p.Arg288His
NM_178468.5:c.863G>A NP_848563.1:p.Arg288His
NM_178468.6:c.863G>A MANE Select NP_848563.1:p.Arg288His
Search 100 bp 5'
Search 100 bp 3'