Canonical Allele Identifier: CA658795655

Gene: FH

Linked Data

• ClinVar Variation Id: 529816
• ClinVar RCV Id: RCV002529843
• dbSNP Id: rs1553341049
• MyVariant Identifiers: chr1:g.241667531del (hg19) ; chr1:g.241504231del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504231del , CM000663.2:g.241504231del	GRCh38
NC_000001.10:g.241667531del , CM000663.1:g.241667531del	GRCh37
NC_000001.9:g.239734154del	NCBI36
NG_012338.1:g.20524del , LRG_504:g.20524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1422del
ENST00000682162.1:c.948del	ENSP00000508203.1:n.948del
ENST00000682567.1:n.996del
ENST00000683521.1:c.919del	ENSP00000506864.1:p.Thr307LeufsTer22
ENST00000684161.1:n.2134del
ENST00000684483.1:c.*315del	ENSP00000507894.1:n.*315del
ENST00000366560.4:c.919del MANE Select	ENSP00000355518.4:p.Thr307LeufsTer22
ENST00000366560.3:c.919del	ENSP00000355518.3:p.Thr307LeufsTer22
NM_000143.3:c.919del , LRG_504t1:c.919del	NP_000134.2:p.Thr307LeufsTer22
XM_011544132.1:c.691del	XP_011542434.1:p.Thr231LeufsTer22
XM_011544132.2:c.691del	XP_011542434.1:p.Thr231LeufsTer22
NM_000143.4:c.919del MANE Select	NP_000134.2:p.Thr307LeufsTer22