Canonical Allele Identifier: CA114505

Gene: FAM83H

Linked Data

• ClinVar Variation Id: 777
• ClinVar RCV Id: RCV000000813
• dbSNP Id: rs137854442
• MyVariant Identifiers: chr8:g.144810771G>T (hg19) ; chr8:g.143728601G>T (hg38)
• PubMed: PMID:19407157

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728601G>T , CM000670.2:g.143728601G>T	GRCh38
NC_000008.10:g.144810771G>T , CM000670.1:g.144810771G>T	GRCh37
NC_000008.9:g.144882759G>T	NCBI36
NG_016652.1:g.10144C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.860C>A MANE Select	ENSP00000373565.3:p.Ser287Ter
ENST00000650760.1:c.1463C>A	ENSP00000499217.1:p.Ser488Ter
ENST00000388913.3:c.860C>A	ENSP00000373565.3:p.Ser287Ter
ENST00000395103.2:c.40C>A
NM_198488.3:c.860C>A	NP_940890.3:p.Ser287Ter
XM_005250887.2:c.917C>A	XP_005250944.1:p.Ser306Ter
XM_005250888.2:c.878C>A	XP_005250945.1:p.Ser293Ter
XM_005250889.2:c.860C>A	XP_005250946.1:p.Ser287Ter
XM_011516980.1:c.1181C>A	XP_011515282.1:p.Ser394Ter
XM_011516981.1:c.1028C>A	XP_011515283.1:p.Ser343Ter
XM_005250887.3:c.917C>A	XP_005250944.1:p.Ser306Ter
XM_005250888.3:c.878C>A	XP_005250945.1:p.Ser293Ter
XM_005250889.3:c.860C>A	XP_005250946.1:p.Ser287Ter
XM_011516980.2:c.1463C>A	XP_011515282.2:p.Ser488Ter
XM_011516981.2:c.1028C>A	XP_011515283.1:p.Ser343Ter
XM_024447131.1:c.860C>A	XP_024302899.1:p.Ser287Ter
NM_198488.4:c.860C>A	NP_940890.3:p.Ser287Ter
NM_198488.5:c.860C>A MANE Select	NP_940890.4:p.Ser287Ter