Canonical Allele Identifier: CA2580063431

Gene: FH

Linked Data

• ClinVar Variation Id: 2013144
• ClinVar RCV Id: RCV002856409

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511957_241511958insT , CM000663.2:g.241511957_241511958insT	GRCh38
NC_000001.10:g.241675257_241675258insT , CM000663.1:g.241675257_241675258insT	GRCh37
NC_000001.9:g.239741880_239741881insT	NCBI36
NG_012338.1:g.12797_12798insA , LRG_504:g.12797_12798insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+9_1058+10insA
ENST00000682162.1:c.584+9_584+10insA	ENSP00000508203.1:n.584+9_584+10insA
ENST00000682567.1:n.632+9_632+10insA
ENST00000683521.1:c.555+9_555+10insA	ENSP00000506864.1:n.555+9_555+10insA
ENST00000684483.1:c.555+9_555+10insA	ENSP00000507894.1:n.555+9_555+10insA
ENST00000366560.4:c.555+9_555+10insA MANE Select	ENSP00000355518.4:n.555+9_555+10insA
ENST00000366560.3:c.555+9_555+10insA	ENSP00000355518.3:n.555+9_555+10insA
ENST00000497042.1:n.260_261insA
NM_000143.3:c.555+9_555+10insA , LRG_504t1:c.555+9_555+10insA	NP_000134.2:n.555+9_555+10insA
XM_011544132.1:c.327+9_327+10insA	XP_011542434.1:n.327+9_327+10insA
XM_011544132.2:c.327+9_327+10insA	XP_011542434.1:n.327+9_327+10insA
NM_000143.4:c.555+9_555+10insA MANE Select	NP_000134.2:n.555+9_555+10insA