Canonical Allele Identifier: CA2739274054

Gene: FH

Linked Data

• ClinVar Variation Id: 2865119
• ClinVar RCV Id: RCV003697637

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512048_241512049delinsTT , CM000663.2:g.241512048_241512049delinsTT	GRCh38
NC_000001.10:g.241675348_241675349delinsTT , CM000663.1:g.241675348_241675349delinsTT	GRCh37
NC_000001.9:g.239741971_239741972delinsTT	NCBI36
NG_012338.1:g.12706_12707delinsAA , LRG_504:g.12706_12707delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.976_977delinsAA
ENST00000682162.1:c.502_503delinsAA	ENSP00000508203.1:n.502_503delinsAA
ENST00000682567.1:n.550_551delinsAA
ENST00000683521.1:c.473_474delinsAA	ENSP00000506864.1:p.Ser158Lys
ENST00000684483.1:c.473_474delinsAA	ENSP00000507894.1:p.Ser158Lys
ENST00000366560.4:c.473_474delinsAA MANE Select	ENSP00000355518.4:p.Ser158Lys
ENST00000366560.3:c.473_474delinsAA	ENSP00000355518.3:p.Ser158Lys
ENST00000497042.1:n.169_170delinsAA
NM_000143.3:c.473_474delinsAA , LRG_504t1:c.473_474delinsAA	NP_000134.2:p.Ser158Lys
XM_011544132.1:c.245_246delinsAA	XP_011542434.1:p.Ser82Lys
XM_011544132.2:c.245_246delinsAA	XP_011542434.1:p.Ser82Lys
NM_000143.4:c.473_474delinsAA MANE Select	NP_000134.2:p.Ser158Lys