Canonical Allele Identifier: CA345439311

Gene: FH

Linked Data

• ClinVar Variation Id: 2571738
• ClinVar RCV Id: RCV003313447
• dbSNP Id: rs2147919565
• MyVariant Identifiers: chr1:g.241671991G>A (hg19) ; chr1:g.241508691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508691G>A , CM000663.2:g.241508691G>A	GRCh38
NC_000001.10:g.241671991G>A , CM000663.1:g.241671991G>A	GRCh37
NC_000001.9:g.239738614G>A	NCBI36
NG_012338.1:g.16064C>T , LRG_504:g.16064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1153C>T
ENST00000682162.1:c.679C>T	ENSP00000508203.1:n.679C>T
ENST00000682567.1:n.727C>T
ENST00000683521.1:c.650C>T	ENSP00000506864.1:p.Ala217Val
ENST00000684161.1:n.1865C>T
ENST00000684483.1:c.*46C>T	ENSP00000507894.1:n.*46C>T
ENST00000366560.4:c.650C>T MANE Select	ENSP00000355518.4:p.Ala217Val
ENST00000366560.3:c.650C>T	ENSP00000355518.3:p.Ala217Val
NM_000143.3:c.650C>T , LRG_504t1:c.650C>T	NP_000134.2:p.Ala217Val
XM_011544132.1:c.422C>T	XP_011542434.1:p.Ala141Val
XM_011544132.2:c.422C>T	XP_011542434.1:p.Ala141Val
NM_000143.4:c.650C>T MANE Select	NP_000134.2:p.Ala217Val