Canonical Allele Identifier: CA16610064

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517181C>T , CM000663.2:g.241517181C>T	GRCh38
NC_000001.10:g.241680481C>T , CM000663.1:g.241680481C>T	GRCh37
NC_000001.9:g.239747104C>T	NCBI36
NG_012338.1:g.7574G>A , LRG_504:g.7574G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.267+1G>A MANE Select	NP_000134.2:n.267+1G>A
ENST00000366560.4:c.267+1G>A MANE Select	ENSP00000355518.4:n.267+1G>A
NM_000143.3:c.267+1G>A , LRG_504t1:c.267+1G>A	NP_000134.2:n.267+1G>A
ENST00000366560.3:c.267+1G>A	ENSP00000355518.3:n.267+1G>A
ENST00000493477.1:n.380+1G>A
ENST00000493477.2:n.770+1G>A
ENST00000682162.1:c.296+1G>A	ENSP00000508203.1:n.296+1G>A
ENST00000682567.1:n.344+1G>A
ENST00000683521.1:c.267+1G>A	ENSP00000506864.1:n.267+1G>A
ENST00000684483.1:c.267+1G>A	ENSP00000507894.1:n.267+1G>A
XM_011544132.1:c.39+1G>A	XP_011542434.1:n.39+1G>A
XM_011544132.2:c.39+1G>A	XP_011542434.1:n.39+1G>A