Canonical Allele Identifier: CA424075690

Gene: FH

Linked Data

• ClinVar Variation Id: 1736898
• ClinVar RCV Id: RCV002357808 ; RCV003574911
• dbSNP Id: rs1408439928
• gnomAD v2: 1-241665818-G-A
• gnomAD v3: 1-241502518-G-A
• gnomAD v4: 1-241502518-G-A
• MyVariant Identifiers: chr1:g.241665818G>A (hg19) ; chr1:g.241502518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502518G>A , CM000663.2:g.241502518G>A	GRCh38
NC_000001.10:g.241665818G>A , CM000663.1:g.241665818G>A	GRCh37
NC_000001.9:g.239732441G>A	NCBI36
NG_012338.1:g.22237C>T , LRG_504:g.22237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1664C>T
ENST00000682162.1:c.1190C>T	ENSP00000508203.1:n.1190C>T
ENST00000682567.1:n.2709C>T
ENST00000683521.1:c.1161C>T	ENSP00000506864.1:p.Val387=
ENST00000684161.1:n.2376C>T
ENST00000684483.1:c.*557C>T	ENSP00000507894.1:n.*557C>T
ENST00000366560.4:c.1161C>T MANE Select	ENSP00000355518.4:p.Val387=
ENST00000366560.3:c.1161C>T	ENSP00000355518.3:p.Val387=
NM_000143.3:c.1161C>T , LRG_504t1:c.1161C>T	NP_000134.2:p.Val387=
XM_011544132.1:c.933C>T	XP_011542434.1:p.Val311=
XM_011544132.2:c.933C>T	XP_011542434.1:p.Val311=
NM_000143.4:c.1161C>T MANE Select	NP_000134.2:p.Val387=