Canonical Allele Identifier: CA424075472

Gene: FH

Linked Data

• ClinVar Variation Id: 1580236
• ClinVar RCV Id: RCV002993474 ; RCV004045753
• dbSNP Id: rs2147913040
• MyVariant Identifiers: chr1:g.241663768T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500468T>C , CM000663.2:g.241500468T>C	GRCh38
NC_000001.10:g.241663768T>C , CM000663.1:g.241663768T>C	GRCh37
NC_000001.9:g.239730391T>C	NCBI36
NG_012338.1:g.24287A>G , LRG_504:g.24287A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1862A>G
ENST00000682162.1:c.1388A>G	ENSP00000508203.1:n.1388A>G
ENST00000682567.1:n.4759A>G
ENST00000683521.1:c.1359A>G	ENSP00000506864.1:p.Leu453=
ENST00000684161.1:n.2574A>G
ENST00000684483.1:c.*755A>G	ENSP00000507894.1:n.*755A>G
ENST00000366560.4:c.1359A>G MANE Select	ENSP00000355518.4:p.Leu453=
ENST00000366560.3:c.1359A>G	ENSP00000355518.3:p.Leu453=
NM_000143.3:c.1359A>G , LRG_504t1:c.1359A>G	NP_000134.2:p.Leu453=
XM_011544132.1:c.1131A>G	XP_011542434.1:p.Leu377=
XM_011544132.2:c.1131A>G	XP_011542434.1:p.Leu377=
NM_000143.4:c.1359A>G MANE Select	NP_000134.2:p.Leu453=