Canonical Allele Identifier: CA345439154

Gene: FH

Linked Data

• ClinVar Variation Id: 529822
• ClinVar RCV Id: RCV002386008 ; RCV003539990
• dbSNP Id: rs1060499636
• MyVariant Identifiers: chr1:g.241671910A>G (hg19) ; chr1:g.241508610A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508610A>G , CM000663.2:g.241508610A>G	GRCh38
NC_000001.10:g.241671910A>G , CM000663.1:g.241671910A>G	GRCh37
NC_000001.9:g.239738533A>G	NCBI36
NG_012338.1:g.16145T>C , LRG_504:g.16145T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1234T>C
ENST00000682162.1:c.760T>C	ENSP00000508203.1:n.760T>C
ENST00000682567.1:n.808T>C
ENST00000683521.1:c.731T>C	ENSP00000506864.1:p.Leu244Pro
ENST00000684161.1:n.1946T>C
ENST00000684483.1:c.*127T>C	ENSP00000507894.1:n.*127T>C
ENST00000366560.4:c.731T>C MANE Select	ENSP00000355518.4:p.Leu244Pro
ENST00000366560.3:c.731T>C	ENSP00000355518.3:p.Leu244Pro
NM_000143.3:c.731T>C , LRG_504t1:c.731T>C	NP_000134.2:p.Leu244Pro
XM_011544132.1:c.503T>C	XP_011542434.1:p.Leu168Pro
XM_011544132.2:c.503T>C	XP_011542434.1:p.Leu168Pro
NM_000143.4:c.731T>C MANE Select	NP_000134.2:p.Leu244Pro