Canonical Allele Identifier: CA2739274038

Gene: FH

Linked Data

• ClinVar Variation Id: 2863175
• ClinVar RCV Id: RCV003700175

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504249_241504250insTTTT , CM000663.2:g.241504249_241504250insTTTT	GRCh38
NC_000001.10:g.241667549_241667550insTTTT , CM000663.1:g.241667549_241667550insTTTT	GRCh37
NC_000001.9:g.239734172_239734173insTTTT	NCBI36
NG_012338.1:g.20505_20506insAAAA , LRG_504:g.20505_20506insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-5_1408-4insAAAA
ENST00000682162.1:c.934-5_934-4insAAAA	ENSP00000508203.1:n.934-5_934-4insAAAA
ENST00000682567.1:n.982-5_982-4insAAAA
ENST00000683521.1:c.905-5_905-4insAAAA	ENSP00000506864.1:n.905-5_905-4insAAAA
ENST00000684161.1:n.2120-5_2120-4insAAAA
ENST00000684483.1:c.*301-5_*301-4insAAAA	ENSP00000507894.1:n.*301-5_*301-4insAAAA
ENST00000366560.4:c.905-5_905-4insAAAA MANE Select	ENSP00000355518.4:n.905-5_905-4insAAAA
ENST00000366560.3:c.905-5_905-4insAAAA	ENSP00000355518.3:n.905-5_905-4insAAAA
NM_000143.3:c.905-5_905-4insAAAA , LRG_504t1:c.905-5_905-4insAAAA	NP_000134.2:n.905-5_905-4insAAAA
XM_011544132.1:c.677-5_677-4insAAAA	XP_011542434.1:n.677-5_677-4insAAAA
XM_011544132.2:c.677-5_677-4insAAAA	XP_011542434.1:n.677-5_677-4insAAAA
NM_000143.4:c.905-5_905-4insAAAA MANE Select	NP_000134.2:n.905-5_905-4insAAAA