Canonical Allele Identifier: CA915942116

Gene: FH

Linked Data

• ClinVar Variation Id: 817022
• ClinVar RCV Id: RCV001008066
• dbSNP Id: rs1573888556

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517304_241517311del , CM000663.2:g.241517304_241517311del	GRCh38
NC_000001.10:g.241680604_241680611del , CM000663.1:g.241680604_241680611del	GRCh37
NC_000001.9:g.239747227_239747234del	NCBI36
NG_012338.1:g.7446_7453del , LRG_504:g.7446_7453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.643_650del
ENST00000682162.1:c.169_176del	ENSP00000508203.1:p.Lys57PhefsTer?
ENST00000682567.1:n.217_224del
ENST00000683521.1:c.140_147del	ENSP00000506864.1:p.Gln47LeufsTer6
ENST00000684483.1:c.140_147del	ENSP00000507894.1:p.Gln47LeufsTer6
ENST00000366560.4:c.140_147del MANE Select	ENSP00000355518.4:p.Gln47LeufsTer6
ENST00000366560.3:c.140_147del	ENSP00000355518.3:p.Gln47LeufsTer6
ENST00000493477.1:n.253_260del
NM_000143.3:c.140_147del , LRG_504t1:c.140_147del	NP_000134.2:p.Gln47LeufsTer6
XM_011544132.1:c.-89_-82del	XP_011542434.1:n.-89_-82del
XM_011544132.2:c.-89_-82del	XP_011542434.1:n.-89_-82del
NM_000143.4:c.140_147del MANE Select	NP_000134.2:p.Gln47LeufsTer6