Canonical Allele Identifier: CA424076469

Gene: FH

Linked Data

• ClinVar Variation Id: 2099868
• ClinVar RCV Id: RCV003021934
• gnomAD v4: 1-241513663-T-A
• MyVariant Identifiers: chr1:g.241676963T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513663T>A , CM000663.2:g.241513663T>A	GRCh38
NC_000001.10:g.241676963T>A , CM000663.1:g.241676963T>A	GRCh37
NC_000001.9:g.239743586T>A	NCBI36
NG_012338.1:g.11092A>T , LRG_504:g.11092A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.821A>T
ENST00000682162.1:c.347A>T	ENSP00000508203.1:n.347A>T
ENST00000682567.1:n.395A>T
ENST00000683521.1:c.318A>T	ENSP00000506864.1:p.Val106=
ENST00000684483.1:c.318A>T	ENSP00000507894.1:p.Val106=
ENST00000366560.4:c.318A>T MANE Select	ENSP00000355518.4:p.Val106=
ENST00000366560.3:c.318A>T	ENSP00000355518.3:p.Val106=
ENST00000497042.1:n.14A>T
NM_000143.3:c.318A>T , LRG_504t1:c.318A>T	NP_000134.2:p.Val106=
XM_011544132.1:c.90A>T	XP_011542434.1:p.Val30=
XM_011544132.2:c.90A>T	XP_011542434.1:p.Val30=
NM_000143.4:c.318A>T MANE Select	NP_000134.2:p.Val106=