Canonical Allele Identifier: CA2580063530

Gene: FH

Linked Data

• ClinVar Variation Id: 2116349
• ClinVar RCV Id: RCV003024677

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508787_241508794del , CM000663.2:g.241508787_241508794del	GRCh38
NC_000001.10:g.241672087_241672094del , CM000663.1:g.241672087_241672094del	GRCh37
NC_000001.9:g.239738710_239738717del	NCBI36
NG_012338.1:g.15961_15968del , LRG_504:g.15961_15968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1059-9_1059-2del
ENST00000682162.1:c.585-9_585-2del	ENSP00000508203.1:n.585-9_585-2del
ENST00000682567.1:n.633-9_633-2del
ENST00000683521.1:c.556-9_556-2del	ENSP00000506864.1:n.556-9_556-2del
ENST00000684161.1:n.1762_1769del
ENST00000684483.1:c.556-34_556-27del	ENSP00000507894.1:n.556-34_556-27del
ENST00000366560.4:c.556-9_556-2del MANE Select	ENSP00000355518.4:n.556-9_556-2del
ENST00000366560.3:c.556-9_556-2del	ENSP00000355518.3:n.556-9_556-2del
NM_000143.3:c.556-9_556-2del , LRG_504t1:c.556-9_556-2del	NP_000134.2:n.556-9_556-2del
XM_011544132.1:c.328-9_328-2del	XP_011542434.1:n.328-9_328-2del
XM_011544132.2:c.328-9_328-2del	XP_011542434.1:n.328-9_328-2del
NM_000143.4:c.556-9_556-2del MANE Select	NP_000134.2:n.556-9_556-2del