Canonical Allele Identifier: CA424075791

Gene: FH

Linked Data

• ClinVar Variation Id: 1759852
• ClinVar RCV Id: RCV002396270 ; RCV003718554
• MyVariant Identifiers: chr1:g.241667430A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504130A>G , CM000663.2:g.241504130A>G	GRCh38
NC_000001.10:g.241667430A>G , CM000663.1:g.241667430A>G	GRCh37
NC_000001.9:g.239734053A>G	NCBI36
NG_012338.1:g.20625T>C , LRG_504:g.20625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1523T>C
ENST00000682162.1:c.1049T>C	ENSP00000508203.1:n.1049T>C
ENST00000682567.1:n.1097T>C
ENST00000683521.1:c.1020T>C	ENSP00000506864.1:p.Asn340=
ENST00000684161.1:n.2235T>C
ENST00000684483.1:c.*416T>C	ENSP00000507894.1:n.*416T>C
ENST00000366560.4:c.1020T>C MANE Select	ENSP00000355518.4:p.Asn340=
ENST00000366560.3:c.1020T>C	ENSP00000355518.3:p.Asn340=
NM_000143.3:c.1020T>C , LRG_504t1:c.1020T>C	NP_000134.2:p.Asn340=
XM_011544132.1:c.792T>C	XP_011542434.1:p.Asn264=
XM_011544132.2:c.792T>C	XP_011542434.1:p.Asn264=
NM_000143.4:c.1020T>C MANE Select	NP_000134.2:p.Asn340=