Canonical Allele Identifier: CA1139656706

Gene: FH

Linked Data

• ClinVar Variation Id: 935261
• ClinVar RCV Id: RCV002561135
• dbSNP Id: rs1660098180

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512039del , CM000663.2:g.241512039del	GRCh38
NC_000001.10:g.241675339del , CM000663.1:g.241675339del	GRCh37
NC_000001.9:g.239741962del	NCBI36
NG_012338.1:g.12717del , LRG_504:g.12717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.987del
ENST00000682162.1:c.513del	ENSP00000508203.1:n.513del
ENST00000682567.1:n.561del
ENST00000683521.1:c.484del	ENSP00000506864.1:p.Ile162LeufsTer4
ENST00000684483.1:c.484del	ENSP00000507894.1:p.Ile162LeufsTer4
ENST00000366560.4:c.484del MANE Select	ENSP00000355518.4:p.Ile162LeufsTer4
ENST00000366560.3:c.484del	ENSP00000355518.3:p.Ile162LeufsTer4
ENST00000497042.1:n.180del
NM_000143.3:c.484del , LRG_504t1:c.484del	NP_000134.2:p.Ile162LeufsTer4
XM_011544132.1:c.256del	XP_011542434.1:p.Ile86LeufsTer4
XM_011544132.2:c.256del	XP_011542434.1:p.Ile86LeufsTer4
NM_000143.4:c.484del MANE Select	NP_000134.2:p.Ile162LeufsTer4