Canonical Allele Identifier: CA2580063512

Gene: FH

Linked Data

• ClinVar Variation Id: 2008799
• ClinVar RCV Id: RCV002828888

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508588G>A , CM000663.2:g.241508588G>A	GRCh38
NC_000001.10:g.241671888G>A , CM000663.1:g.241671888G>A	GRCh37
NC_000001.9:g.239738511G>A	NCBI36
NG_012338.1:g.16167C>T , LRG_504:g.16167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1241+15C>T
ENST00000682162.1:c.767+15C>T	ENSP00000508203.1:n.767+15C>T
ENST00000682567.1:n.815+15C>T
ENST00000683521.1:c.738+15C>T	ENSP00000506864.1:n.738+15C>T
ENST00000684161.1:n.1953+15C>T
ENST00000684483.1:c.*134+15C>T	ENSP00000507894.1:n.*134+15C>T
ENST00000366560.4:c.738+15C>T MANE Select	ENSP00000355518.4:n.738+15C>T
ENST00000366560.3:c.738+15C>T	ENSP00000355518.3:n.738+15C>T
NM_000143.3:c.738+15C>T , LRG_504t1:c.738+15C>T	NP_000134.2:n.738+15C>T
XM_011544132.1:c.510+15C>T	XP_011542434.1:n.510+15C>T
XM_011544132.2:c.510+15C>T	XP_011542434.1:n.510+15C>T
NM_000143.4:c.738+15C>T MANE Select	NP_000134.2:n.738+15C>T