Canonical Allele Identifier: CA2748368225

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502819A>G , CM000663.2:g.241502819A>G	GRCh38
NC_000001.10:g.241666119A>G , CM000663.1:g.241666119A>G	GRCh37
NC_000001.9:g.239732742A>G	NCBI36
NG_012338.1:g.21936T>C , LRG_504:g.21936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1612-249T>C
ENST00000682162.1:c.1138-249T>C	ENSP00000508203.1:n.1138-249T>C
ENST00000682567.1:n.2408T>C
ENST00000683521.1:c.1109-249T>C	ENSP00000506864.1:n.1109-249T>C
ENST00000684161.1:n.2324-249T>C
ENST00000684483.1:c.*505-249T>C	ENSP00000507894.1:n.*505-249T>C
ENST00000366560.4:c.1109-249T>C MANE Select	ENSP00000355518.4:n.1109-249T>C
ENST00000366560.3:c.1109-249T>C	ENSP00000355518.3:n.1109-249T>C
NM_000143.3:c.1109-249T>C , LRG_504t1:c.1109-249T>C	NP_000134.2:n.1109-249T>C
XM_011544132.1:c.881-249T>C	XP_011542434.1:n.881-249T>C
XM_011544132.2:c.881-249T>C	XP_011542434.1:n.881-249T>C
NM_000143.4:c.1109-249T>C MANE Select	NP_000134.2:n.1109-249T>C