Canonical Allele Identifier: CA916442128

Gene: FH

Linked Data

• dbSNP Id: rs1573882918

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508384_241508389del , CM000663.2:g.241508384_241508389del	GRCh38
NC_000001.10:g.241671684_241671689del , CM000663.1:g.241671684_241671689del	GRCh37
NC_000001.9:g.239738307_239738312del	NCBI36
NG_012338.1:g.16368_16373del , LRG_504:g.16368_16373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1241+216_1241+221del
ENST00000682162.1:c.767+216_767+221del	ENSP00000508203.1:n.767+216_767+221del
ENST00000682567.1:n.815+216_815+221del
ENST00000683521.1:c.738+216_738+221del	ENSP00000506864.1:n.738+216_738+221del
ENST00000684161.1:n.1953+216_1953+221del
ENST00000684483.1:c.*134+216_*134+221del	ENSP00000507894.1:n.*134+216_*134+221del
ENST00000366560.4:c.738+216_738+221del MANE Select	ENSP00000355518.4:n.738+216_738+221del
ENST00000366560.3:c.738+216_738+221del	ENSP00000355518.3:n.738+216_738+221del
NM_000143.3:c.738+216_738+221del , LRG_504t1:c.738+216_738+221del	NP_000134.2:n.738+216_738+221del
XM_011544132.1:c.510+216_510+221del	XP_011542434.1:n.510+216_510+221del
XM_011544132.2:c.510+216_510+221del	XP_011542434.1:n.510+216_510+221del
NM_000143.4:c.738+216_738+221del MANE Select	NP_000134.2:n.738+216_738+221del