Canonical Allele Identifier: CA323994

Gene: FH

Linked Data

• ClinVar Variation Id: 214376
• ClinVar RCV Id: RCV000199454 ; RCV002257492
• dbSNP Id: rs863223968
• gnomAD v2: 1-241671938-G-A
• gnomAD v4: 1-241508638-G-A
• MyVariant Identifiers: chr1:g.241671938G>A (hg19) ; chr1:g.241508638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508638G>A , CM000663.2:g.241508638G>A	GRCh38
NC_000001.10:g.241671938G>A , CM000663.1:g.241671938G>A	GRCh37
NC_000001.9:g.239738561G>A	NCBI36
NG_012338.1:g.16117C>T , LRG_504:g.16117C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1206C>T
ENST00000682162.1:c.732C>T	ENSP00000508203.1:n.732C>T
ENST00000682567.1:n.780C>T
ENST00000683521.1:c.703C>T	ENSP00000506864.1:p.His235Tyr
ENST00000684161.1:n.1918C>T
ENST00000684483.1:c.*99C>T	ENSP00000507894.1:n.*99C>T
ENST00000366560.4:c.703C>T MANE Select	ENSP00000355518.4:p.His235Tyr
ENST00000366560.3:c.703C>T	ENSP00000355518.3:p.His235Tyr
NM_000143.3:c.703C>T , LRG_504t1:c.703C>T	NP_000134.2:p.His235Tyr
XM_011544132.1:c.475C>T	XP_011542434.1:p.His159Tyr
XM_011544132.2:c.475C>T	XP_011542434.1:p.His159Tyr
NM_000143.4:c.703C>T MANE Select	NP_000134.2:p.His235Tyr