Canonical Allele Identifier: CA4917533

Gene: FAM83H

Linked Data

• ClinVar Variation Id: 3047415
• ClinVar RCV Id: RCV003949401
• dbSNP Id: rs568621365
• ExAC: 8:144810589 G / A
• gnomAD v2: 8-144810589-G-A
• gnomAD v3: 8-143728419-G-A
• gnomAD v4: 8-143728419-G-A
• COSMIC: COSM4599715
• MyVariant Identifiers: chr8:g.144810589G>A (hg19) ; chr8:g.143728419G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728419G>A , CM000670.2:g.143728419G>A	GRCh38
NC_000008.10:g.144810589G>A , CM000670.1:g.144810589G>A	GRCh37
NC_000008.9:g.144882577G>A	NCBI36
NG_016652.1:g.10326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1042C>T MANE Select	ENSP00000373565.3:p.Arg348Cys
ENST00000650760.1:c.1645C>T	ENSP00000499217.1:p.Arg549Cys
ENST00000388913.3:c.1042C>T	ENSP00000373565.3:p.Arg348Cys
ENST00000395103.2:c.222C>T
NM_198488.3:c.1042C>T	NP_940890.3:p.Arg348Cys
XM_005250887.2:c.1099C>T	XP_005250944.1:p.Arg367Cys
XM_005250888.2:c.1060C>T	XP_005250945.1:p.Arg354Cys
XM_005250889.2:c.1042C>T	XP_005250946.1:p.Arg348Cys
XM_011516980.1:c.1363C>T	XP_011515282.1:p.Arg455Cys
XM_011516981.1:c.1210C>T	XP_011515283.1:p.Arg404Cys
XM_005250887.3:c.1099C>T	XP_005250944.1:p.Arg367Cys
XM_005250888.3:c.1060C>T	XP_005250945.1:p.Arg354Cys
XM_005250889.3:c.1042C>T	XP_005250946.1:p.Arg348Cys
XM_011516980.2:c.1645C>T	XP_011515282.2:p.Arg549Cys
XM_011516981.2:c.1210C>T	XP_011515283.1:p.Arg404Cys
XM_024447131.1:c.1042C>T	XP_024302899.1:p.Arg348Cys
NM_198488.4:c.1042C>T	NP_940890.3:p.Arg348Cys
NM_198488.5:c.1042C>T MANE Select	NP_940890.4:p.Arg348Cys