Canonical Allele Identifier: CA4917507

Gene: FAM83H

Linked Data

• dbSNP Id: rs782535275
• ExAC: 8:144810411 A / C
• gnomAD v2: 8-144810411-A-C
• gnomAD v4: 8-143728241-A-C
• MyVariant Identifiers: chr8:g.144810411A>C (hg19) ; chr8:g.143728241A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728241A>C , CM000670.2:g.143728241A>C	GRCh38
NC_000008.10:g.144810411A>C , CM000670.1:g.144810411A>C	GRCh37
NC_000008.9:g.144882399A>C	NCBI36
NG_016652.1:g.10504T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1220T>G MANE Select	ENSP00000373565.3:p.Phe407Cys
ENST00000650760.1:c.1823T>G	ENSP00000499217.1:p.Phe608Cys
ENST00000388913.3:c.1220T>G	ENSP00000373565.3:p.Phe407Cys
ENST00000395103.2:c.400T>G
NM_198488.3:c.1220T>G	NP_940890.3:p.Phe407Cys
XM_005250887.2:c.1277T>G	XP_005250944.1:p.Phe426Cys
XM_005250888.2:c.1238T>G	XP_005250945.1:p.Phe413Cys
XM_005250889.2:c.1220T>G	XP_005250946.1:p.Phe407Cys
XM_011516980.1:c.1541T>G	XP_011515282.1:p.Phe514Cys
XM_011516981.1:c.1388T>G	XP_011515283.1:p.Phe463Cys
XM_005250887.3:c.1277T>G	XP_005250944.1:p.Phe426Cys
XM_005250888.3:c.1238T>G	XP_005250945.1:p.Phe413Cys
XM_005250889.3:c.1220T>G	XP_005250946.1:p.Phe407Cys
XM_011516980.2:c.1823T>G	XP_011515282.2:p.Phe608Cys
XM_011516981.2:c.1388T>G	XP_011515283.1:p.Phe463Cys
XM_024447131.1:c.1220T>G	XP_024302899.1:p.Phe407Cys
NM_198488.4:c.1220T>G	NP_940890.3:p.Phe407Cys
NM_198488.5:c.1220T>G MANE Select	NP_940890.4:p.Phe407Cys