Canonical Allele Identifier: CA1478644

Gene: FH

Linked Data

• ClinVar Variation Id: 460369
• ClinVar RCV Id: RCV000842699 ; RCV002367802
• dbSNP Id: rs377222193
• ExAC: 1:241672002 C / T
• gnomAD v2: 1-241672002-C-T
• gnomAD v3: 1-241508702-C-T
• gnomAD v4: 1-241508702-C-T
• MyVariant Identifiers: chr1:g.241672002C>T (hg19) ; chr1:g.241508702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508702C>T , CM000663.2:g.241508702C>T	GRCh38
NC_000001.10:g.241672002C>T , CM000663.1:g.241672002C>T	GRCh37
NC_000001.9:g.239738625C>T	NCBI36
NG_012338.1:g.16053G>A , LRG_504:g.16053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1142G>A
ENST00000682162.1:c.668G>A	ENSP00000508203.1:n.668G>A
ENST00000682567.1:n.716G>A
ENST00000683521.1:c.639G>A	ENSP00000506864.1:p.Lys213=
ENST00000684161.1:n.1854G>A
ENST00000684483.1:c.*35G>A	ENSP00000507894.1:n.*35G>A
ENST00000366560.4:c.639G>A MANE Select	ENSP00000355518.4:p.Lys213=
ENST00000366560.3:c.639G>A	ENSP00000355518.3:p.Lys213=
NM_000143.3:c.639G>A , LRG_504t1:c.639G>A	NP_000134.2:p.Lys213=
XM_011544132.1:c.411G>A	XP_011542434.1:p.Lys137=
XM_011544132.2:c.411G>A	XP_011542434.1:p.Lys137=
NM_000143.4:c.639G>A MANE Select	NP_000134.2:p.Lys213=