Canonical Allele Identifier: CA1229582041

Gene: FH

Linked Data

• ClinVar Variation Id: 1012039
• ClinVar RCV Id: RCV002543537
• dbSNP Id: rs1660097679

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512025_241512027del , CM000663.2:g.241512025_241512027del	GRCh38
NC_000001.10:g.241675325_241675327del , CM000663.1:g.241675325_241675327del	GRCh37
NC_000001.9:g.239741948_239741950del	NCBI36
NG_012338.1:g.12731_12733del , LRG_504:g.12731_12733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1001_1003del
ENST00000682162.1:c.527_529del	ENSP00000508203.1:n.527_529del
ENST00000682567.1:n.575_577del
ENST00000683521.1:c.498_500del	ENSP00000506864.1:p.Gly167del
ENST00000684483.1:c.498_500del	ENSP00000507894.1:p.Gly167del
ENST00000366560.4:c.498_500del MANE Select	ENSP00000355518.4:p.Gly167del
ENST00000366560.3:c.498_500del	ENSP00000355518.3:p.Gly167del
ENST00000497042.1:n.194_196del
NM_000143.3:c.498_500del , LRG_504t1:c.498_500del	NP_000134.2:p.Gly167del
XM_011544132.1:c.270_272del	XP_011542434.1:p.Gly91del
XM_011544132.2:c.270_272del	XP_011542434.1:p.Gly91del
NM_000143.4:c.498_500del MANE Select	NP_000134.2:p.Gly167del