Canonical Allele Identifier: CA345439228

Gene: FH

Linked Data

• ClinVar Variation Id: 485566
• ClinVar RCV Id: RCV000562550 ; RCV000804121 ; RCV001770522
• dbSNP Id: rs1335587342
• gnomAD v4: 1-241508649-A-G
• MyVariant Identifiers: chr1:g.241671949A>G (hg19) ; chr1:g.241508649A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508649A>G , CM000663.2:g.241508649A>G	GRCh38
NC_000001.10:g.241671949A>G , CM000663.1:g.241671949A>G	GRCh37
NC_000001.9:g.239738572A>G	NCBI36
NG_012338.1:g.16106T>C , LRG_504:g.16106T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1195T>C
ENST00000682162.1:c.721T>C	ENSP00000508203.1:n.721T>C
ENST00000682567.1:n.769T>C
ENST00000683521.1:c.692T>C	ENSP00000506864.1:p.Ile231Thr
ENST00000684161.1:n.1907T>C
ENST00000684483.1:c.*88T>C	ENSP00000507894.1:n.*88T>C
ENST00000366560.4:c.692T>C MANE Select	ENSP00000355518.4:p.Ile231Thr
ENST00000366560.3:c.692T>C	ENSP00000355518.3:p.Ile231Thr
NM_000143.3:c.692T>C , LRG_504t1:c.692T>C	NP_000134.2:p.Ile231Thr
XM_011544132.1:c.464T>C	XP_011542434.1:p.Ile155Thr
XM_011544132.2:c.464T>C	XP_011542434.1:p.Ile155Thr
NM_000143.4:c.692T>C MANE Select	NP_000134.2:p.Ile231Thr