Canonical Allele Identifier: CA2697547770

Gene: FH

Linked Data

• ClinVar Variation Id: 2767852
• ClinVar RCV Id: RCV003574100

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504259_241504261del , CM000663.2:g.241504259_241504261del	GRCh38
NC_000001.10:g.241667559_241667561del , CM000663.1:g.241667559_241667561del	GRCh37
NC_000001.9:g.239734182_239734184del	NCBI36
NG_012338.1:g.20496_20498del , LRG_504:g.20496_20498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-14_1408-12del
ENST00000682162.1:c.934-14_934-12del	ENSP00000508203.1:n.934-14_934-12del
ENST00000682567.1:n.982-14_982-12del
ENST00000683521.1:c.905-14_905-12del	ENSP00000506864.1:n.905-14_905-12del
ENST00000684161.1:n.2120-14_2120-12del
ENST00000684483.1:c.*301-14_*301-12del	ENSP00000507894.1:n.*301-14_*301-12del
ENST00000366560.4:c.905-14_905-12del MANE Select	ENSP00000355518.4:n.905-14_905-12del
ENST00000366560.3:c.905-14_905-12del	ENSP00000355518.3:n.905-14_905-12del
NM_000143.3:c.905-14_905-12del , LRG_504t1:c.905-14_905-12del	NP_000134.2:n.905-14_905-12del
XM_011544132.1:c.677-14_677-12del	XP_011542434.1:n.677-14_677-12del
XM_011544132.2:c.677-14_677-12del	XP_011542434.1:n.677-14_677-12del
NM_000143.4:c.905-14_905-12del MANE Select	NP_000134.2:n.905-14_905-12del