Canonical Allele Identifier: CA4917564

Gene: FAM83H

Linked Data

• ClinVar Variation Id: 2622030
• ClinVar RCV Id: RCV003386644
• dbSNP Id: rs782125363
• ExAC: 8:144810753 C / T
• gnomAD v2: 8-144810753-C-T
• gnomAD v3: 8-143728583-C-T
• gnomAD v4: 8-143728583-C-T
• MyVariant Identifiers: chr8:g.144810753C>T (hg19) ; chr8:g.143728583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728583C>T , CM000670.2:g.143728583C>T	GRCh38
NC_000008.10:g.144810753C>T , CM000670.1:g.144810753C>T	GRCh37
NC_000008.9:g.144882741C>T	NCBI36
NG_016652.1:g.10162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.878G>A MANE Select	ENSP00000373565.3:p.Arg293His
ENST00000650760.1:c.1481G>A	ENSP00000499217.1:p.Arg494His
ENST00000388913.3:c.878G>A	ENSP00000373565.3:p.Arg293His
ENST00000395103.2:c.58G>A
NM_198488.3:c.878G>A	NP_940890.3:p.Arg293His
XM_005250887.2:c.935G>A	XP_005250944.1:p.Arg312His
XM_005250888.2:c.896G>A	XP_005250945.1:p.Arg299His
XM_005250889.2:c.878G>A	XP_005250946.1:p.Arg293His
XM_011516980.1:c.1199G>A	XP_011515282.1:p.Arg400His
XM_011516981.1:c.1046G>A	XP_011515283.1:p.Arg349His
XM_005250887.3:c.935G>A	XP_005250944.1:p.Arg312His
XM_005250888.3:c.896G>A	XP_005250945.1:p.Arg299His
XM_005250889.3:c.878G>A	XP_005250946.1:p.Arg293His
XM_011516980.2:c.1481G>A	XP_011515282.2:p.Arg494His
XM_011516981.2:c.1046G>A	XP_011515283.1:p.Arg349His
XM_024447131.1:c.878G>A	XP_024302899.1:p.Arg293His
NM_198488.4:c.878G>A	NP_940890.3:p.Arg293His
NM_198488.5:c.878G>A MANE Select	NP_940890.4:p.Arg293His