Canonical Allele Identifier: CA2573051543

Gene: FH

Linked Data

• dbSNP Id: rs2147915018

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502556del , CM000663.2:g.241502556del	GRCh38
NC_000001.10:g.241665856del , CM000663.1:g.241665856del	GRCh37
NC_000001.9:g.239732479del	NCBI36
NG_012338.1:g.22199del , LRG_504:g.22199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1626del
ENST00000682162.1:c.1152del	ENSP00000508203.1:n.1152del
ENST00000682567.1:n.2671del
ENST00000683521.1:c.1123del	ENSP00000506864.1:p.Thr375LeufsTer6
ENST00000684161.1:n.2338del
ENST00000684483.1:c.*519del	ENSP00000507894.1:n.*519del
ENST00000366560.4:c.1123del MANE Select	ENSP00000355518.4:p.Thr375LeufsTer6
ENST00000366560.3:c.1123del	ENSP00000355518.3:p.Thr375LeufsTer6
NM_000143.3:c.1123del , LRG_504t1:c.1123del	NP_000134.2:p.Thr375LeufsTer6
XM_011544132.1:c.895del	XP_011542434.1:p.Thr299LeufsTer6
XM_011544132.2:c.895del	XP_011542434.1:p.Thr299LeufsTer6
NM_000143.4:c.1123del MANE Select	NP_000134.2:p.Thr375LeufsTer6