Canonical Allele Identifier: CA16609361

Gene: FH

Linked Data

• ClinVar Variation Id: 393580
• ClinVar RCV Id: RCV000445613 ; RCV001010289 ; RCV002525532 ; RCV003463832
• dbSNP Id: rs1060499644
• MyVariant Identifiers: chr1:g.241665770del (hg19) ; chr1:g.241502470del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502473del , CM000663.2:g.241502473del	GRCh38
NC_000001.10:g.241665773del , CM000663.1:g.241665773del	GRCh37
NC_000001.9:g.239732396del	NCBI36
NG_012338.1:g.22285del , LRG_504:g.22285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1712del
ENST00000682162.1:c.1238del	ENSP00000508203.1:n.1238del
ENST00000682567.1:n.2757del
ENST00000683521.1:c.1209del	ENSP00000506864.1:p.Phe403LeufsTer3
ENST00000684161.1:n.2424del
ENST00000684483.1:c.*605del	ENSP00000507894.1:n.*605del
ENST00000366560.4:c.1209del MANE Select	ENSP00000355518.4:p.Phe403LeufsTer3
ENST00000366560.3:c.1209del	ENSP00000355518.3:p.Phe403LeufsTer3
NM_000143.3:c.1209del , LRG_504t1:c.1209del	NP_000134.2:p.Phe403LeufsTer3
XM_011544132.1:c.981del	XP_011542434.1:p.Phe327LeufsTer3
XM_011544132.2:c.981del	XP_011542434.1:p.Phe327LeufsTer3
NM_000143.4:c.1209del MANE Select	NP_000134.2:p.Phe403LeufsTer3