Canonical Allele Identifier: CA345440095
Gene: FH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512079T>A , CM000663.2:g.241512079T>A GRCh38
NC_000001.10:g.241675379T>A , CM000663.1:g.241675379T>A GRCh37
NC_000001.9:g.239742002T>A NCBI36
NG_012338.1:g.12676A>T , LRG_504:g.12676A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.946A>T
ENST00000682162.1:c.472A>T ENSP00000508203.1:n.472A>T
ENST00000682567.1:n.520A>T
ENST00000683521.1:c.443A>T ENSP00000506864.1:p.Gln148Leu
ENST00000684483.1:c.443A>T ENSP00000507894.1:p.Gln148Leu
ENST00000366560.4:c.443A>T MANE Select ENSP00000355518.4:p.Gln148Leu
ENST00000366560.3:c.443A>T ENSP00000355518.3:p.Gln148Leu
ENST00000497042.1:n.139A>T
NM_000143.3:c.443A>T , LRG_504t1:c.443A>T NP_000134.2:p.Gln148Leu
XM_011544132.1:c.215A>T XP_011542434.1:p.Gln72Leu
XM_011544132.2:c.215A>T XP_011542434.1:p.Gln72Leu
NM_000143.4:c.443A>T MANE Select NP_000134.2:p.Gln148Leu