Canonical Allele Identifier: CA1478757

Gene: FH

Linked Data

• ClinVar Variation Id: 485557
• ClinVar RCV Id: RCV000565315 ; RCV001273185 ; RCV002528977
• dbSNP Id: rs543844061
• ExAC: 1:241680595 T / A
• gnomAD v2: 1-241680595-T-A
• gnomAD v3: 1-241517295-T-A
• gnomAD v4: 1-241517295-T-A
• MyVariant Identifiers: chr1:g.241680595T>A (hg19) ; chr1:g.241517295T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517295T>A , CM000663.2:g.241517295T>A	GRCh38
NC_000001.10:g.241680595T>A , CM000663.1:g.241680595T>A	GRCh37
NC_000001.9:g.239747218T>A	NCBI36
NG_012338.1:g.7460A>T , LRG_504:g.7460A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.657A>T
ENST00000682162.1:c.183A>T	ENSP00000508203.1:p.Gly61=
ENST00000682567.1:n.231A>T
ENST00000683521.1:c.154A>T	ENSP00000506864.1:p.Ile52Leu
ENST00000684483.1:c.154A>T	ENSP00000507894.1:p.Ile52Leu
ENST00000366560.4:c.154A>T MANE Select	ENSP00000355518.4:p.Ile52Leu
ENST00000366560.3:c.154A>T	ENSP00000355518.3:p.Ile52Leu
ENST00000493477.1:n.267A>T
NM_000143.3:c.154A>T , LRG_504t1:c.154A>T	NP_000134.2:p.Ile52Leu
XM_011544132.1:c.-75A>T	XP_011542434.1:n.-75A>T
XM_011544132.2:c.-75A>T	XP_011542434.1:n.-75A>T
NM_000143.4:c.154A>T MANE Select	NP_000134.2:p.Ile52Leu