Canonical Allele Identifier: CA1229581924
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241511761T= , CM000663.2:g.241511761T= GRCh38
NC_000001.10:g.241675061T= , CM000663.1:g.241675061T= GRCh37
NC_000001.9:g.239741684T= NCBI36
NG_012338.1:g.12994A= , LRG_504:g.12994A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1058+206A=
ENST00000682162.1:c.584+206A= ENSP00000508203.1:n.584+206A=
ENST00000682567.1:n.632+206A=
ENST00000683521.1:c.555+206A= ENSP00000506864.1:n.555+206A=
ENST00000684483.1:c.555+206A= ENSP00000507894.1:n.555+206A=
ENST00000366560.4:c.555+206A= MANE Select ENSP00000355518.4:n.555+206A=
ENST00000366560.3:c.555+206A= ENSP00000355518.3:n.555+206A=
NM_000143.3:c.555+206A= , LRG_504t1:c.555+206A= NP_000134.2:n.555+206A=
XM_011544132.1:c.327+206A= XP_011542434.1:n.327+206A=
XM_011544132.2:c.327+206A= XP_011542434.1:n.327+206A=
NM_000143.4:c.555+206A= MANE Select NP_000134.2:n.555+206A=