Canonical Allele Identifier: CA658795647

Gene: FH

Linked Data

• ClinVar Variation Id: 529823
• ClinVar RCV Id: RCV001024403 ; RCV002528876
• dbSNP Id: rs1553341367
• MyVariant Identifiers: chr1:g.241672072_241672073del (hg19) ; chr1:g.241508772_241508773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508772_241508773del , CM000663.2:g.241508772_241508773del	GRCh38
NC_000001.10:g.241672072_241672073del , CM000663.1:g.241672072_241672073del	GRCh37
NC_000001.9:g.239738695_239738696del	NCBI36
NG_012338.1:g.15982_15983del , LRG_504:g.15982_15983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1071_1072del
ENST00000682162.1:c.597_598del	ENSP00000508203.1:n.597_598del
ENST00000682567.1:n.645_646del
ENST00000683521.1:c.568_569del	ENSP00000506864.1:p.Thr190PhefsTer15
ENST00000684161.1:n.1783_1784del
ENST00000684483.1:c.556-13_556-12del	ENSP00000507894.1:n.556-13_556-12del
ENST00000366560.4:c.568_569del MANE Select	ENSP00000355518.4:p.Thr190PhefsTer15
ENST00000366560.3:c.568_569del	ENSP00000355518.3:p.Thr190PhefsTer15
NM_000143.3:c.568_569del , LRG_504t1:c.568_569del	NP_000134.2:p.Thr190PhefsTer15
XM_011544132.1:c.340_341del	XP_011542434.1:p.Thr114PhefsTer15
XM_011544132.2:c.340_341del	XP_011542434.1:p.Thr114PhefsTer15
NM_000143.4:c.568_569del MANE Select	NP_000134.2:p.Thr190PhefsTer15