Canonical Allele Identifier: CA1229578056
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502312T= , CM000663.2:g.241502312T= GRCh38
NC_000001.10:g.241665612T= , CM000663.1:g.241665612T= GRCh37
NC_000001.9:g.239732235T= NCBI36
NG_012338.1:g.22443A= , LRG_504:g.22443A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1739+131A=
ENST00000682162.1:c.1265+131A= ENSP00000508203.1:n.1265+131A=
ENST00000682567.1:n.2915A=
ENST00000683521.1:c.1236+131A= ENSP00000506864.1:n.1236+131A=
ENST00000684161.1:n.2451+131A=
ENST00000684483.1:c.*632+131A= ENSP00000507894.1:n.*632+131A=
ENST00000366560.4:c.1236+131A= MANE Select ENSP00000355518.4:n.1236+131A=
ENST00000366560.3:c.1236+131A= ENSP00000355518.3:n.1236+131A=
NM_000143.3:c.1236+131A= , LRG_504t1:c.1236+131A= NP_000134.2:n.1236+131A=
XM_011544132.1:c.1008+131A= XP_011542434.1:n.1008+131A=
XM_011544132.2:c.1008+131A= XP_011542434.1:n.1008+131A=
NM_000143.4:c.1236+131A= MANE Select NP_000134.2:n.1236+131A=