Canonical Allele Identifier: CA2499214636

Gene: FH

Linked Data

• ClinVar Variation Id: 1076604
• ClinVar RCV Id: RCV002551576
• dbSNP Id: rs2147919385

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508607_241508608del , CM000663.2:g.241508607_241508608del	GRCh38
NC_000001.10:g.241671907_241671908del , CM000663.1:g.241671907_241671908del	GRCh37
NC_000001.9:g.239738530_239738531del	NCBI36
NG_012338.1:g.16148_16149del , LRG_504:g.16148_16149del

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1237_1238del
ENST00000682162.1:c.763_764del	ENSP00000508203.1:n.763_764del
ENST00000682567.1:n.811_812del
ENST00000683521.1:c.734_735del	ENSP00000506864.1:p.Gly245AlafsTer4
ENST00000684161.1:n.1949_1950del
ENST00000684483.1:c.*130_*131del	ENSP00000507894.1:n.*130_*131del
ENST00000366560.4:c.734_735del MANE Select	ENSP00000355518.4:p.Gly245AlafsTer4
ENST00000366560.3:c.734_735del	ENSP00000355518.3:p.Gly245AlafsTer4
NM_000143.3:c.734_735del , LRG_504t1:c.734_735del	NP_000134.2:p.Gly245AlafsTer4
XM_011544132.1:c.506_507del	XP_011542434.1:p.Gly169AlafsTer4
XM_011544132.2:c.506_507del	XP_011542434.1:p.Gly169AlafsTer4
NM_000143.4:c.734_735del MANE Select	NP_000134.2:p.Gly245AlafsTer4