Canonical Allele Identifier: CA2651254489

Gene: FH

Linked Data

• gnomAD v4: 1-241500381-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500381G>T , CM000663.2:g.241500381G>T	GRCh38
NC_000001.10:g.241663681G>T , CM000663.1:g.241663681G>T	GRCh37
NC_000001.9:g.239730304G>T	NCBI36
NG_012338.1:g.24374C>A , LRG_504:g.24374C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1893+56C>A
ENST00000682162.1:c.1419+56C>A	ENSP00000508203.1:n.1419+56C>A
ENST00000682567.1:n.4790+56C>A
ENST00000683521.1:c.*3C>A	ENSP00000506864.1:n.*3C>A
ENST00000684161.1:n.2605+56C>A
ENST00000684483.1:c.*786+56C>A	ENSP00000507894.1:n.*786+56C>A
ENST00000366560.4:c.1390+56C>A MANE Select	ENSP00000355518.4:n.1390+56C>A
ENST00000366560.3:c.1390+56C>A	ENSP00000355518.3:n.1390+56C>A
NM_000143.3:c.1390+56C>A , LRG_504t1:c.1390+56C>A	NP_000134.2:n.1390+56C>A
XM_011544132.1:c.1162+56C>A	XP_011542434.1:n.1162+56C>A
XM_011544132.2:c.1162+56C>A	XP_011542434.1:n.1162+56C>A
NM_000143.4:c.1390+56C>A MANE Select	NP_000134.2:n.1390+56C>A