Canonical Allele Identifier: CA424075854

Gene: FH

Linked Data

• ClinVar Variation Id: 1766242
• ClinVar RCV Id: RCV002371296
• dbSNP Id: rs1240528183
• gnomAD v2: 1-241667529-A-G
• gnomAD v4: 1-241504229-A-G
• MyVariant Identifiers: chr1:g.241667529A>G (hg19) ; chr1:g.241504229A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504229A>G , CM000663.2:g.241504229A>G	GRCh38
NC_000001.10:g.241667529A>G , CM000663.1:g.241667529A>G	GRCh37
NC_000001.9:g.239734152A>G	NCBI36
NG_012338.1:g.20526T>C , LRG_504:g.20526T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1424T>C
ENST00000682162.1:c.950T>C	ENSP00000508203.1:n.950T>C
ENST00000682567.1:n.998T>C
ENST00000683521.1:c.921T>C	ENSP00000506864.1:p.Thr307=
ENST00000684161.1:n.2136T>C
ENST00000684483.1:c.*317T>C	ENSP00000507894.1:n.*317T>C
ENST00000366560.4:c.921T>C MANE Select	ENSP00000355518.4:p.Thr307=
ENST00000366560.3:c.921T>C	ENSP00000355518.3:p.Thr307=
NM_000143.3:c.921T>C , LRG_504t1:c.921T>C	NP_000134.2:p.Thr307=
XM_011544132.1:c.693T>C	XP_011542434.1:p.Thr231=
XM_011544132.2:c.693T>C	XP_011542434.1:p.Thr231=
NM_000143.4:c.921T>C MANE Select	NP_000134.2:p.Thr307=