Canonical Allele Identifier: CA424075694

Gene: FH

Linked Data

• ClinVar Variation Id: 2735119
• ClinVar RCV Id: RCV003557368 ; RCV004369266
• COSMIC: COSM290796
• MyVariant Identifiers: chr1:g.241665824G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502524G>A , CM000663.2:g.241502524G>A	GRCh38
NC_000001.10:g.241665824G>A , CM000663.1:g.241665824G>A	GRCh37
NC_000001.9:g.239732447G>A	NCBI36
NG_012338.1:g.22231C>T , LRG_504:g.22231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1658C>T
ENST00000682162.1:c.1184C>T	ENSP00000508203.1:n.1184C>T
ENST00000682567.1:n.2703C>T
ENST00000683521.1:c.1155C>T	ENSP00000506864.1:p.Ala385=
ENST00000684161.1:n.2370C>T
ENST00000684483.1:c.*551C>T	ENSP00000507894.1:n.*551C>T
ENST00000366560.4:c.1155C>T MANE Select	ENSP00000355518.4:p.Ala385=
ENST00000366560.3:c.1155C>T	ENSP00000355518.3:p.Ala385=
NM_000143.3:c.1155C>T , LRG_504t1:c.1155C>T	NP_000134.2:p.Ala385=
XM_011544132.1:c.927C>T	XP_011542434.1:p.Ala309=
XM_011544132.2:c.927C>T	XP_011542434.1:p.Ala309=
NM_000143.4:c.1155C>T MANE Select	NP_000134.2:p.Ala385=