Canonical Allele Identifier: CA2574470561

Gene: FH

Linked Data

• ClinVar Variation Id: 2757176
• ClinVar RCV Id: RCV003567127

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513663_241513664dup , CM000663.2:g.241513663_241513664dup	GRCh38
NC_000001.10:g.241676963_241676964dup , CM000663.1:g.241676963_241676964dup	GRCh37
NC_000001.9:g.239743586_239743587dup	NCBI36
NG_012338.1:g.11091_11092dup , LRG_504:g.11091_11092dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.820_821dup
ENST00000682162.1:c.346_347dup	ENSP00000508203.1:n.346_347dup
ENST00000682567.1:n.394_395dup
ENST00000683521.1:c.317_318dup	ENSP00000506864.1:p.Asn107Ter
ENST00000684483.1:c.317_318dup	ENSP00000507894.1:p.Asn107Ter
ENST00000366560.4:c.317_318dup MANE Select	ENSP00000355518.4:p.Asn107Ter
ENST00000366560.3:c.317_318dup	ENSP00000355518.3:p.Asn107Ter
ENST00000497042.1:n.13_14dup
NM_000143.3:c.317_318dup , LRG_504t1:c.317_318dup	NP_000134.2:p.Asn107Ter
XM_011544132.1:c.89_90dup	XP_011542434.1:p.Asn31Ter
XM_011544132.2:c.89_90dup	XP_011542434.1:p.Asn31Ter
NM_000143.4:c.317_318dup MANE Select	NP_000134.2:p.Asn107Ter