Canonical Allele Identifier: CA345439292

Gene: FH

Linked Data

• ClinVar Variation Id: 1414208
• ClinVar RCV Id: RCV002556385
• dbSNP Id: rs2147919540
• MyVariant Identifiers: chr1:g.241671979T>A (hg19) ; chr1:g.241508679T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508679T>A , CM000663.2:g.241508679T>A	GRCh38
NC_000001.10:g.241671979T>A , CM000663.1:g.241671979T>A	GRCh37
NC_000001.9:g.239738602T>A	NCBI36
NG_012338.1:g.16076A>T , LRG_504:g.16076A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1165A>T
ENST00000682162.1:c.691A>T	ENSP00000508203.1:n.691A>T
ENST00000682567.1:n.739A>T
ENST00000683521.1:c.662A>T	ENSP00000506864.1:p.Lys221Ile
ENST00000684161.1:n.1877A>T
ENST00000684483.1:c.*58A>T	ENSP00000507894.1:n.*58A>T
ENST00000366560.4:c.662A>T MANE Select	ENSP00000355518.4:p.Lys221Ile
ENST00000366560.3:c.662A>T	ENSP00000355518.3:p.Lys221Ile
NM_000143.3:c.662A>T , LRG_504t1:c.662A>T	NP_000134.2:p.Lys221Ile
XM_011544132.1:c.434A>T	XP_011542434.1:p.Lys145Ile
XM_011544132.2:c.434A>T	XP_011542434.1:p.Lys145Ile
NM_000143.4:c.662A>T MANE Select	NP_000134.2:p.Lys221Ile