Canonical Allele Identifier: CA285329

Gene: FH

Linked Data

• ClinVar Variation Id: 92458
• ClinVar RCV Id: RCV000078152 ; RCV000445608 ; RCV000762893 ; RCV002371923 ; RCV003460742
• dbSNP Id: rs398123168
• gnomAD v4: 1-241504198-G-A
• MyVariant Identifiers: chr1:g.241667498G>A (hg19) ; chr1:g.241504198G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504198G>A , CM000663.2:g.241504198G>A	GRCh38
NC_000001.10:g.241667498G>A , CM000663.1:g.241667498G>A	GRCh37
NC_000001.9:g.239734121G>A	NCBI36
NG_012338.1:g.20557C>T , LRG_504:g.20557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1455C>T
ENST00000682162.1:c.981C>T	ENSP00000508203.1:n.981C>T
ENST00000682567.1:n.1029C>T
ENST00000683521.1:c.952C>T	ENSP00000506864.1:p.His318Tyr
ENST00000684161.1:n.2167C>T
ENST00000684483.1:c.*348C>T	ENSP00000507894.1:n.*348C>T
ENST00000366560.4:c.952C>T MANE Select	ENSP00000355518.4:p.His318Tyr
ENST00000366560.3:c.952C>T	ENSP00000355518.3:p.His318Tyr
NM_000143.3:c.952C>T , LRG_504t1:c.952C>T	NP_000134.2:p.His318Tyr
XM_011544132.1:c.724C>T	XP_011542434.1:p.His242Tyr
XM_011544132.2:c.724C>T	XP_011542434.1:p.His242Tyr
NM_000143.4:c.952C>T MANE Select	NP_000134.2:p.His318Tyr