Canonical Allele Identifier: CA313511676
Gene: FAM83C HGNC NCBI
dbSNP:
928282874
gnomAD v2:
20:33874567 C / T
gnomAD v4:
chr20-35286764-C-T
Joint Max Group AF 0.00001803 (NFE)
Exomes Max Group AF 0.00001914 (NFE)
MyVariant.info:
GRCh38 chr20:g.35286764C>T
GRCh37 chr20:g.33874567C>T
Revel Score:
ENST00000374408 (MANE Select) 0.087
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35286764C>T , CM000682.2:g.35286764C>T GRCh38
NC_000020.10:g.33874567C>T , CM000682.1:g.33874567C>T GRCh37
NC_000020.9:g.33337981C>T NCBI36
NG_023238.1:g.3028G>A
NG_053068.1:g.10659G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374408.4:c.2015G>A MANE Select ENSP00000363529.3:p.Arg672Gln
ENST00000374408.3:c.2015G>A ENSP00000363529.3:p.Arg672Gln
NM_178468.5:c.2015G>A NP_848563.1:p.Arg672Gln
NM_178468.6:c.2015G>A MANE Select NP_848563.1:p.Arg672Gln
Search 100 bp 5'
Search 100 bp 3'