Canonical Allele Identifier: CA16609380

Gene: FH

Linked Data

• ClinVar Variation Id: 393557
• ClinVar RCV Id: RCV000445623 ; RCV001529890 ; RCV002402222
• dbSNP Id: rs863224013
• MyVariant Identifiers: chr1:g.241680592C>A (hg19) ; chr1:g.241517292C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517292C>A , CM000663.2:g.241517292C>A	GRCh38
NC_000001.10:g.241680592C>A , CM000663.1:g.241680592C>A	GRCh37
NC_000001.9:g.239747215C>A	NCBI36
NG_012338.1:g.7463G>T , LRG_504:g.7463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.660G>T
ENST00000682162.1:c.186G>T	ENSP00000508203.1:p.Ter62Tyr
ENST00000682567.1:n.234G>T
ENST00000683521.1:c.157G>T	ENSP00000506864.1:p.Glu53Ter
ENST00000684483.1:c.157G>T	ENSP00000507894.1:p.Glu53Ter
ENST00000366560.4:c.157G>T MANE Select	ENSP00000355518.4:p.Glu53Ter
ENST00000366560.3:c.157G>T	ENSP00000355518.3:p.Glu53Ter
ENST00000493477.1:n.270G>T
NM_000143.3:c.157G>T , LRG_504t1:c.157G>T	NP_000134.2:p.Glu53Ter
XM_011544132.1:c.-72G>T	XP_011542434.1:n.-72G>T
XM_011544132.2:c.-72G>T	XP_011542434.1:n.-72G>T
NM_000143.4:c.157G>T MANE Select	NP_000134.2:p.Glu53Ter