Canonical Allele Identifier: CA2573051542

Gene: FH

Linked Data

• dbSNP Id: rs2147915001

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502545_241502546dup , CM000663.2:g.241502545_241502546dup	GRCh38
NC_000001.10:g.241665845_241665846dup , CM000663.1:g.241665845_241665846dup	GRCh37
NC_000001.9:g.239732468_239732469dup	NCBI36
NG_012338.1:g.22209_22210dup , LRG_504:g.22209_22210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1636_1637dup
ENST00000682162.1:c.1162_1163dup	ENSP00000508203.1:n.1162_1163dup
ENST00000682567.1:n.2681_2682dup
ENST00000683521.1:c.1133_1134dup	ENSP00000506864.1:p.Ala379LysfsTer3
ENST00000684161.1:n.2348_2349dup
ENST00000684483.1:c.*529_*530dup	ENSP00000507894.1:n.*529_*530dup
ENST00000366560.4:c.1133_1134dup MANE Select	ENSP00000355518.4:p.Ala379LysfsTer3
ENST00000366560.3:c.1133_1134dup	ENSP00000355518.3:p.Ala379LysfsTer3
NM_000143.3:c.1133_1134dup , LRG_504t1:c.1133_1134dup	NP_000134.2:p.Ala379LysfsTer3
XM_011544132.1:c.905_906dup	XP_011542434.1:p.Ala303LysfsTer3
XM_011544132.2:c.905_906dup	XP_011542434.1:p.Ala303LysfsTer3
NM_000143.4:c.1133_1134dup MANE Select	NP_000134.2:p.Ala379LysfsTer3