Canonical Allele Identifier: CA2506809178

Gene: FH

Linked Data

• gnomAD v4: 1-241511749-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511756dup , CM000663.2:g.241511756dup	GRCh38
NC_000001.10:g.241675056dup , CM000663.1:g.241675056dup	GRCh37
NC_000001.9:g.239741679dup	NCBI36
NG_012338.1:g.13005dup , LRG_504:g.13005dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+217dup
ENST00000682162.1:c.584+217dup	ENSP00000508203.1:n.584+217dup
ENST00000682567.1:n.632+217dup
ENST00000683521.1:c.555+217dup	ENSP00000506864.1:n.555+217dup
ENST00000684483.1:c.555+217dup	ENSP00000507894.1:n.555+217dup
ENST00000366560.4:c.555+217dup MANE Select	ENSP00000355518.4:n.555+217dup
ENST00000366560.3:c.555+217dup	ENSP00000355518.3:n.555+217dup
NM_000143.3:c.555+217dup , LRG_504t1:c.555+217dup	NP_000134.2:n.555+217dup
XM_011544132.1:c.327+217dup	XP_011542434.1:n.327+217dup
XM_011544132.2:c.327+217dup	XP_011542434.1:n.327+217dup
NM_000143.4:c.555+217dup MANE Select	NP_000134.2:n.555+217dup