Canonical Allele Identifier: CA16609359

Gene: FH

Linked Data

• ClinVar Variation Id: 393582
• ClinVar RCV Id: RCV000445610 ; RCV002393069 ; RCV002522734
• dbSNP Id: rs1060499645
• MyVariant Identifiers: chr1:g.241661192del (hg19) ; chr1:g.241497892del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241497893del , CM000663.2:g.241497893del	GRCh38
NC_000001.10:g.241661193del , CM000663.1:g.241661193del	GRCh37
NC_000001.9:g.239727816del	NCBI36
NG_012338.1:g.26863del , LRG_504:g.26863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1972del
ENST00000682162.1:c.1498del	ENSP00000508203.1:n.1498del
ENST00000682567.1:n.4869del
ENST00000684161.1:n.2684del
ENST00000684483.1:c.*865del	ENSP00000507894.1:n.*865del
ENST00000366560.4:c.1469del MANE Select	ENSP00000355518.4:p.Gly490AlafsTer12
ENST00000366560.3:c.1469del	ENSP00000355518.3:p.Gly490AlafsTer12
NM_000143.3:c.1469del , LRG_504t1:c.1469del	NP_000134.2:p.Gly490AlafsTer12
XM_011544132.1:c.1241del	XP_011542434.1:p.Gly414AlafsTer12
XM_011544132.2:c.1241del	XP_011542434.1:p.Gly414AlafsTer12
NM_000143.4:c.1469del MANE Select	NP_000134.2:p.Gly490AlafsTer12