Canonical Allele Identifier: CA1229582005
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241511945A= , CM000663.2:g.241511945A= GRCh38
NC_000001.10:g.241675245A= , CM000663.1:g.241675245A= GRCh37
NC_000001.9:g.239741868A= NCBI36
NG_012338.1:g.12810T= , LRG_504:g.12810T=

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1058+22T=
ENST00000682162.1:c.584+22T= ENSP00000508203.1:n.584+22T=
ENST00000682567.1:n.632+22T=
ENST00000683521.1:c.555+22T= ENSP00000506864.1:n.555+22T=
ENST00000684483.1:c.555+22T= ENSP00000507894.1:n.555+22T=
ENST00000366560.4:c.555+22T= MANE Select ENSP00000355518.4:n.555+22T=
ENST00000366560.3:c.555+22T= ENSP00000355518.3:n.555+22T=
ENST00000497042.1:n.273T=
NM_000143.3:c.555+22T= , LRG_504t1:c.555+22T= NP_000134.2:n.555+22T=
XM_011544132.1:c.327+22T= XP_011542434.1:n.327+22T=
XM_011544132.2:c.327+22T= XP_011542434.1:n.327+22T=
NM_000143.4:c.555+22T= MANE Select NP_000134.2:n.555+22T=