Canonical Allele Identifier: CA40327543

Gene: FH

Linked Data

• ClinVar Variation Id: 460340
• ClinVar RCV Id: RCV001010798 ; RCV001098856 ; RCV000543314 ; RCV002527719
• dbSNP Id: rs201005880
• gnomAD v2: 1-241663835-G-A
• gnomAD v4: 1-241500535-G-A
• COSMIC: COSM6424532
• MyVariant Identifiers: chr1:g.241663835G>A (hg19) ; chr1:g.241500535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500535G>A , CM000663.2:g.241500535G>A	GRCh38
NC_000001.10:g.241663835G>A , CM000663.1:g.241663835G>A	GRCh37
NC_000001.9:g.239730458G>A	NCBI36
NG_012338.1:g.24220C>T , LRG_504:g.24220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1795C>T
ENST00000682162.1:c.1321C>T	ENSP00000508203.1:n.1321C>T
ENST00000682567.1:n.4692C>T
ENST00000683521.1:c.1292C>T	ENSP00000506864.1:p.Thr431Ile
ENST00000684161.1:n.2507C>T
ENST00000684483.1:c.*688C>T	ENSP00000507894.1:n.*688C>T
ENST00000366560.4:c.1292C>T MANE Select	ENSP00000355518.4:p.Thr431Ile
ENST00000366560.3:c.1292C>T	ENSP00000355518.3:p.Thr431Ile
NM_000143.3:c.1292C>T , LRG_504t1:c.1292C>T	NP_000134.2:p.Thr431Ile
XM_011544132.1:c.1064C>T	XP_011542434.1:p.Thr355Ile
XM_011544132.2:c.1064C>T	XP_011542434.1:p.Thr355Ile
NM_000143.4:c.1292C>T MANE Select	NP_000134.2:p.Thr431Ile