Canonical Allele Identifier: CA345439509

Gene: FH

Linked Data

• ClinVar Variation Id: 429166
• ClinVar RCV Id: RCV000494364
• dbSNP Id: rs1131691233
• MyVariant Identifiers: chr1:g.241672085T>A (hg19) ; chr1:g.241508785T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508785T>A , CM000663.2:g.241508785T>A	GRCh38
NC_000001.10:g.241672085T>A , CM000663.1:g.241672085T>A	GRCh37
NC_000001.9:g.239738708T>A	NCBI36
NG_012338.1:g.15970A>T , LRG_504:g.15970A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1059A>T
ENST00000682162.1:c.585A>T	ENSP00000508203.1:n.585A>T
ENST00000682567.1:n.633A>T
ENST00000683521.1:c.556A>T	ENSP00000506864.1:p.Ser186Cys
ENST00000684161.1:n.1771A>T
ENST00000684483.1:c.556-25A>T	ENSP00000507894.1:n.556-25A>T
ENST00000366560.4:c.556A>T MANE Select	ENSP00000355518.4:p.Ser186Cys
ENST00000366560.3:c.556A>T	ENSP00000355518.3:p.Ser186Cys
NM_000143.3:c.556A>T , LRG_504t1:c.556A>T	NP_000134.2:p.Ser186Cys
XM_011544132.1:c.328A>T	XP_011542434.1:p.Ser110Cys
XM_011544132.2:c.328A>T	XP_011542434.1:p.Ser110Cys
NM_000143.4:c.556A>T MANE Select	NP_000134.2:p.Ser186Cys