Canonical Allele Identifier: CA345436399

Gene: FH

Linked Data

• ClinVar Variation Id: 2562372
• ClinVar RCV Id: RCV003310432
• MyVariant Identifiers: chr1:g.241663767T>C (hg19) ; chr1:g.241500467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500467T>C , CM000663.2:g.241500467T>C	GRCh38
NC_000001.10:g.241663767T>C , CM000663.1:g.241663767T>C	GRCh37
NC_000001.9:g.239730390T>C	NCBI36
NG_012338.1:g.24288A>G , LRG_504:g.24288A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1863A>G
ENST00000682162.1:c.1389A>G	ENSP00000508203.1:n.1389A>G
ENST00000682567.1:n.4760A>G
ENST00000683521.1:c.1360A>G	ENSP00000506864.1:p.Met454Val
ENST00000684161.1:n.2575A>G
ENST00000684483.1:c.*756A>G	ENSP00000507894.1:n.*756A>G
ENST00000366560.4:c.1360A>G MANE Select	ENSP00000355518.4:p.Met454Val
ENST00000366560.3:c.1360A>G	ENSP00000355518.3:p.Met454Val
NM_000143.3:c.1360A>G , LRG_504t1:c.1360A>G	NP_000134.2:p.Met454Val
XM_011544132.1:c.1132A>G	XP_011542434.1:p.Met378Val
XM_011544132.2:c.1132A>G	XP_011542434.1:p.Met378Val
NM_000143.4:c.1360A>G MANE Select	NP_000134.2:p.Met454Val