Canonical Allele Identifier: CA1229578172
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502564A= , CM000663.2:g.241502564A= GRCh38
NC_000001.10:g.241665864A= , CM000663.1:g.241665864A= GRCh37
NC_000001.9:g.239732487A= NCBI36
NG_012338.1:g.22191T= , LRG_504:g.22191T=

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1618T=
ENST00000682162.1:c.1144T= ENSP00000508203.1:n.1144T=
ENST00000682567.1:n.2663T=
ENST00000683521.1:c.1115T= ENSP00000506864.1:p.Val372=
ENST00000684161.1:n.2330T=
ENST00000684483.1:c.*511T= ENSP00000507894.1:n.*511T=
ENST00000366560.4:c.1115T= MANE Select ENSP00000355518.4:p.Val372=
ENST00000366560.3:c.1115T= ENSP00000355518.3:p.Val372=
NM_000143.3:c.1115T= , LRG_504t1:c.1115T= NP_000134.2:p.Val372=
XM_011544132.1:c.887T= XP_011542434.1:p.Val296=
XM_011544132.2:c.887T= XP_011542434.1:p.Val296=
NM_000143.4:c.1115T= MANE Select NP_000134.2:p.Val372=