Canonical Allele Identifier: CA2698403043

Gene: FH

Linked Data

• dbSNP Id: rs2147916374

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504238del , CM000663.2:g.241504238del	GRCh38
NC_000001.10:g.241667538del , CM000663.1:g.241667538del	GRCh37
NC_000001.9:g.239734161del	NCBI36
NG_012338.1:g.20520del , LRG_504:g.20520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1418del
ENST00000682162.1:c.944del	ENSP00000508203.1:n.944del
ENST00000682567.1:n.992del
ENST00000683521.1:c.915del	ENSP00000506864.1:p.Phe305LeufsTer24
ENST00000684161.1:n.2130del
ENST00000684483.1:c.*311del	ENSP00000507894.1:n.*311del
ENST00000366560.4:c.915del MANE Select	ENSP00000355518.4:p.Phe305LeufsTer24
ENST00000366560.3:c.915del	ENSP00000355518.3:p.Phe305LeufsTer24
NM_000143.3:c.915del , LRG_504t1:c.915del	NP_000134.2:p.Phe305LeufsTer24
XM_011544132.1:c.687del	XP_011542434.1:p.Phe229LeufsTer24
XM_011544132.2:c.687del	XP_011542434.1:p.Phe229LeufsTer24
NM_000143.4:c.915del MANE Select	NP_000134.2:p.Phe305LeufsTer24