Canonical Allele Identifier: CA345441935

Gene: FH

Linked Data

• ClinVar Variation Id: 1779172
• ClinVar RCV Id: RCV002407484
• gnomAD v4: 1-241517276-C-T
• MyVariant Identifiers: chr1:g.241680576C>T (hg19) ; chr1:g.241517276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517276C>T , CM000663.2:g.241517276C>T	GRCh38
NC_000001.10:g.241680576C>T , CM000663.1:g.241680576C>T	GRCh37
NC_000001.9:g.239747199C>T	NCBI36
NG_012338.1:g.7479G>A , LRG_504:g.7479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.676G>A
ENST00000682162.1:c.202G>A	ENSP00000508203.1:n.202G>A
ENST00000682567.1:n.250G>A
ENST00000683521.1:c.173G>A	ENSP00000506864.1:p.Gly58Asp
ENST00000684483.1:c.173G>A	ENSP00000507894.1:p.Gly58Asp
ENST00000366560.4:c.173G>A MANE Select	ENSP00000355518.4:p.Gly58Asp
ENST00000366560.3:c.173G>A	ENSP00000355518.3:p.Gly58Asp
ENST00000493477.1:n.286G>A
NM_000143.3:c.173G>A , LRG_504t1:c.173G>A	NP_000134.2:p.Gly58Asp
XM_011544132.1:c.-56G>A	XP_011542434.1:n.-56G>A
XM_011544132.2:c.-56G>A	XP_011542434.1:n.-56G>A
NM_000143.4:c.173G>A MANE Select	NP_000134.2:p.Gly58Asp