Canonical Allele Identifier: CA424075737

Gene: FH

Linked Data

• ClinVar Variation Id: 748095
• ClinVar RCV Id: RCV001399306 ; RCV002454102
• dbSNP Id: rs1361977903
• gnomAD v2: 1-241667358-T-C
• gnomAD v4: 1-241504058-T-C
• MyVariant Identifiers: chr1:g.241667358T>C (hg19) ; chr1:g.241504058T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504058T>C , CM000663.2:g.241504058T>C	GRCh38
NC_000001.10:g.241667358T>C , CM000663.1:g.241667358T>C	GRCh37
NC_000001.9:g.239733981T>C	NCBI36
NG_012338.1:g.20697A>G , LRG_504:g.20697A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1595A>G
ENST00000682162.1:c.1121A>G	ENSP00000508203.1:n.1121A>G
ENST00000682567.1:n.1169A>G
ENST00000683521.1:c.1092A>G	ENSP00000506864.1:p.Gly364=
ENST00000684161.1:n.2307A>G
ENST00000684483.1:c.*488A>G	ENSP00000507894.1:n.*488A>G
ENST00000366560.4:c.1092A>G MANE Select	ENSP00000355518.4:p.Gly364=
ENST00000366560.3:c.1092A>G	ENSP00000355518.3:p.Gly364=
NM_000143.3:c.1092A>G , LRG_504t1:c.1092A>G	NP_000134.2:p.Gly364=
XM_011544132.1:c.864A>G	XP_011542434.1:p.Gly288=
XM_011544132.2:c.864A>G	XP_011542434.1:p.Gly288=
NM_000143.4:c.1092A>G MANE Select	NP_000134.2:p.Gly364=