Canonical Allele Identifier: CA915942115

Gene: FH

Linked Data

• ClinVar Variation Id: 820545
• ClinVar RCV Id: RCV001014114
• dbSNP Id: rs1573888450

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517248_241517250del , CM000663.2:g.241517248_241517250del	GRCh38
NC_000001.10:g.241680548_241680550del , CM000663.1:g.241680548_241680550del	GRCh37
NC_000001.9:g.239747171_239747173del	NCBI36
NG_012338.1:g.7508_7510del , LRG_504:g.7508_7510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.705_707del
ENST00000682162.1:c.231_233del	ENSP00000508203.1:n.231_233del
ENST00000682567.1:n.279_281del
ENST00000683521.1:c.202_204del	ENSP00000506864.1:p.Tyr68del
ENST00000684483.1:c.202_204del	ENSP00000507894.1:p.Tyr68del
ENST00000366560.4:c.202_204del MANE Select	ENSP00000355518.4:p.Tyr68del
ENST00000366560.3:c.202_204del	ENSP00000355518.3:p.Tyr68del
ENST00000493477.1:n.315_317del
NM_000143.3:c.202_204del , LRG_504t1:c.202_204del	NP_000134.2:p.Tyr68del
XM_011544132.1:c.-27_-25del	XP_011542434.1:n.-27_-25del
XM_011544132.2:c.-27_-25del	XP_011542434.1:n.-27_-25del
NM_000143.4:c.202_204del MANE Select	NP_000134.2:p.Tyr68del