Canonical Allele Identifier: CA345436886

Gene: FH

Linked Data

• ClinVar Variation Id: 2143810
• ClinVar RCV Id: RCV003068074
• dbSNP Id: rs2147913351
• MyVariant Identifiers: chr1:g.241663874T>A (hg19) ; chr1:g.241500574T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500574T>A , CM000663.2:g.241500574T>A	GRCh38
NC_000001.10:g.241663874T>A , CM000663.1:g.241663874T>A	GRCh37
NC_000001.9:g.239730497T>A	NCBI36
NG_012338.1:g.24181A>T , LRG_504:g.24181A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1756A>T
ENST00000682162.1:c.1282A>T	ENSP00000508203.1:n.1282A>T
ENST00000682567.1:n.4653A>T
ENST00000683521.1:c.1253A>T	ENSP00000506864.1:p.His418Leu
ENST00000684161.1:n.2468A>T
ENST00000684483.1:c.*649A>T	ENSP00000507894.1:n.*649A>T
ENST00000366560.4:c.1253A>T MANE Select	ENSP00000355518.4:p.His418Leu
ENST00000366560.3:c.1253A>T	ENSP00000355518.3:p.His418Leu
NM_000143.3:c.1253A>T , LRG_504t1:c.1253A>T	NP_000134.2:p.His418Leu
XM_011544132.1:c.1025A>T	XP_011542434.1:p.His342Leu
XM_011544132.2:c.1025A>T	XP_011542434.1:p.His342Leu
NM_000143.4:c.1253A>T MANE Select	NP_000134.2:p.His418Leu