Canonical Allele Identifier: CA424075850

Gene: FH

Linked Data

• gnomAD v4: 1-241504223-C-A
• MyVariant Identifiers: chr1:g.241667523C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504223C>A , CM000663.2:g.241504223C>A	GRCh38
NC_000001.10:g.241667523C>A , CM000663.1:g.241667523C>A	GRCh37
NC_000001.9:g.239734146C>A	NCBI36
NG_012338.1:g.20532G>T , LRG_504:g.20532G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1430G>T
ENST00000682162.1:c.956G>T	ENSP00000508203.1:n.956G>T
ENST00000682567.1:n.1004G>T
ENST00000683521.1:c.927G>T	ENSP00000506864.1:p.Pro309=
ENST00000684161.1:n.2142G>T
ENST00000684483.1:c.*323G>T	ENSP00000507894.1:n.*323G>T
ENST00000366560.4:c.927G>T MANE Select	ENSP00000355518.4:p.Pro309=
ENST00000366560.3:c.927G>T	ENSP00000355518.3:p.Pro309=
NM_000143.3:c.927G>T , LRG_504t1:c.927G>T	NP_000134.2:p.Pro309=
XM_011544132.1:c.699G>T	XP_011542434.1:p.Pro233=
XM_011544132.2:c.699G>T	XP_011542434.1:p.Pro233=
NM_000143.4:c.927G>T MANE Select	NP_000134.2:p.Pro309=