Canonical Allele Identifier: CA345437584

Gene: FH

Linked Data

• ClinVar Variation Id: 529802
• ClinVar RCV Id: RCV000635286
• dbSNP Id: rs1553340880
• MyVariant Identifiers: chr1:g.241665849C>T (hg19) ; chr1:g.241502549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502549C>T , CM000663.2:g.241502549C>T	GRCh38
NC_000001.10:g.241665849C>T , CM000663.1:g.241665849C>T	GRCh37
NC_000001.9:g.239732472C>T	NCBI36
NG_012338.1:g.22206G>A , LRG_504:g.22206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1633G>A
ENST00000682162.1:c.1159G>A	ENSP00000508203.1:n.1159G>A
ENST00000682567.1:n.2678G>A
ENST00000683521.1:c.1130G>A	ENSP00000506864.1:p.Cys377Tyr
ENST00000684161.1:n.2345G>A
ENST00000684483.1:c.*526G>A	ENSP00000507894.1:n.*526G>A
ENST00000366560.4:c.1130G>A MANE Select	ENSP00000355518.4:p.Cys377Tyr
ENST00000366560.3:c.1130G>A	ENSP00000355518.3:p.Cys377Tyr
NM_000143.3:c.1130G>A , LRG_504t1:c.1130G>A	NP_000134.2:p.Cys377Tyr
XM_011544132.1:c.902G>A	XP_011542434.1:p.Cys301Tyr
XM_011544132.2:c.902G>A	XP_011542434.1:p.Cys301Tyr
NM_000143.4:c.1130G>A MANE Select	NP_000134.2:p.Cys377Tyr