Canonical Allele Identifier: CA321156

Gene: FH

Linked Data

• ClinVar Variation Id: 214415
• ClinVar RCV Id: RCV000196740 ; RCV002372179 ; RCV003483571
• dbSNP Id: rs863224001
• MyVariant Identifiers: chr1:g.241667513C>A (hg19) ; chr1:g.241504213C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504213C>A , CM000663.2:g.241504213C>A	GRCh38
NC_000001.10:g.241667513C>A , CM000663.1:g.241667513C>A	GRCh37
NC_000001.9:g.239734136C>A	NCBI36
NG_012338.1:g.20542G>T , LRG_504:g.20542G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1440G>T
ENST00000682162.1:c.966G>T	ENSP00000508203.1:n.966G>T
ENST00000682567.1:n.1014G>T
ENST00000683521.1:c.937G>T	ENSP00000506864.1:p.Glu313Ter
ENST00000684161.1:n.2152G>T
ENST00000684483.1:c.*333G>T	ENSP00000507894.1:n.*333G>T
ENST00000366560.4:c.937G>T MANE Select	ENSP00000355518.4:p.Glu313Ter
ENST00000366560.3:c.937G>T	ENSP00000355518.3:p.Glu313Ter
NM_000143.3:c.937G>T , LRG_504t1:c.937G>T	NP_000134.2:p.Glu313Ter
XM_011544132.1:c.709G>T	XP_011542434.1:p.Glu237Ter
XM_011544132.2:c.709G>T	XP_011542434.1:p.Glu237Ter
NM_000143.4:c.937G>T MANE Select	NP_000134.2:p.Glu313Ter