Canonical Allele Identifier: CA40327907

Gene: FH

Linked Data

• ClinVar Variation Id: 1782534
• ClinVar RCV Id: RCV002410567
• dbSNP Id: rs951913314
• gnomAD v3: 1-241504082-C-T
• gnomAD v4: 1-241504082-C-T
• MyVariant Identifiers: chr1:g.241667382C>T (hg19) ; chr1:g.241504082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504082C>T , CM000663.2:g.241504082C>T	GRCh38
NC_000001.10:g.241667382C>T , CM000663.1:g.241667382C>T	GRCh37
NC_000001.9:g.239734005C>T	NCBI36
NG_012338.1:g.20673G>A , LRG_504:g.20673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1571G>A
ENST00000682162.1:c.1097G>A	ENSP00000508203.1:n.1097G>A
ENST00000682567.1:n.1145G>A
ENST00000683521.1:c.1068G>A	ENSP00000506864.1:p.Leu356=
ENST00000684161.1:n.2283G>A
ENST00000684483.1:c.*464G>A	ENSP00000507894.1:n.*464G>A
ENST00000366560.4:c.1068G>A MANE Select	ENSP00000355518.4:p.Leu356=
ENST00000366560.3:c.1068G>A	ENSP00000355518.3:p.Leu356=
NM_000143.3:c.1068G>A , LRG_504t1:c.1068G>A	NP_000134.2:p.Leu356=
XM_011544132.1:c.840G>A	XP_011542434.1:p.Leu280=
XM_011544132.2:c.840G>A	XP_011542434.1:p.Leu280=
NM_000143.4:c.1068G>A MANE Select	NP_000134.2:p.Leu356=