Canonical Allele Identifier: CA1014011769

Gene: FH

Linked Data

• dbSNP Id: rs1660003861
• gnomAD v3: 1-241508910-TG-T
• gnomAD v4: 1-241508910-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508911del , CM000663.2:g.241508911del	GRCh38
NC_000001.10:g.241672211del , CM000663.1:g.241672211del	GRCh37
NC_000001.9:g.239738834del	NCBI36
NG_012338.1:g.15844del , LRG_504:g.15844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1059-126del
ENST00000682162.1:c.585-126del	ENSP00000508203.1:n.585-126del
ENST00000682567.1:n.633-126del
ENST00000683521.1:c.556-126del	ENSP00000506864.1:n.556-126del
ENST00000684161.1:n.1645del
ENST00000684483.1:c.556-151del	ENSP00000507894.1:n.556-151del
ENST00000366560.4:c.556-126del MANE Select	ENSP00000355518.4:n.556-126del
ENST00000366560.3:c.556-126del	ENSP00000355518.3:n.556-126del
NM_000143.3:c.556-126del , LRG_504t1:c.556-126del	NP_000134.2:n.556-126del
XM_011544132.1:c.328-126del	XP_011542434.1:n.328-126del
XM_011544132.2:c.328-126del	XP_011542434.1:n.328-126del
NM_000143.4:c.556-126del MANE Select	NP_000134.2:n.556-126del