Canonical Allele Identifier: CA345438252

Gene: FH

Linked Data

• ClinVar Variation Id: 529804
• ClinVar RCV Id: RCV002386006 ; RCV002529840
• dbSNP Id: rs1553341031
• gnomAD v4: 1-241504151-G-T
• MyVariant Identifiers: chr1:g.241667451G>T (hg19) ; chr1:g.241504151G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504151G>T , CM000663.2:g.241504151G>T	GRCh38
NC_000001.10:g.241667451G>T , CM000663.1:g.241667451G>T	GRCh37
NC_000001.9:g.239734074G>T	NCBI36
NG_012338.1:g.20604C>A , LRG_504:g.20604C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1502C>A
ENST00000682162.1:c.1028C>A	ENSP00000508203.1:n.1028C>A
ENST00000682567.1:n.1076C>A
ENST00000683521.1:c.999C>A	ENSP00000506864.1:p.Cys333Ter
ENST00000684161.1:n.2214C>A
ENST00000684483.1:c.*395C>A	ENSP00000507894.1:n.*395C>A
ENST00000366560.4:c.999C>A MANE Select	ENSP00000355518.4:p.Cys333Ter
ENST00000366560.3:c.999C>A	ENSP00000355518.3:p.Cys333Ter
NM_000143.3:c.999C>A , LRG_504t1:c.999C>A	NP_000134.2:p.Cys333Ter
XM_011544132.1:c.771C>A	XP_011542434.1:p.Cys257Ter
XM_011544132.2:c.771C>A	XP_011542434.1:p.Cys257Ter
NM_000143.4:c.999C>A MANE Select	NP_000134.2:p.Cys333Ter