Canonical Allele Identifier: CA40327910

Gene: FH

Linked Data

• ClinVar Variation Id: 823566
• ClinVar RCV Id: RCV001019920 ; RCV002550853
• dbSNP Id: rs757921798
• gnomAD v2: 1-241667457-A-G
• gnomAD v4: 1-241504157-A-G
• MyVariant Identifiers: chr1:g.241667457A>G (hg19) ; chr1:g.241504157A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504157A>G , CM000663.2:g.241504157A>G	GRCh38
NC_000001.10:g.241667457A>G , CM000663.1:g.241667457A>G	GRCh37
NC_000001.9:g.239734080A>G	NCBI36
NG_012338.1:g.20598T>C , LRG_504:g.20598T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1496T>C
ENST00000682162.1:c.1022T>C	ENSP00000508203.1:n.1022T>C
ENST00000682567.1:n.1070T>C
ENST00000683521.1:c.993T>C	ENSP00000506864.1:p.Thr331=
ENST00000684161.1:n.2208T>C
ENST00000684483.1:c.*389T>C	ENSP00000507894.1:n.*389T>C
ENST00000366560.4:c.993T>C MANE Select	ENSP00000355518.4:p.Thr331=
ENST00000366560.3:c.993T>C	ENSP00000355518.3:p.Thr331=
NM_000143.3:c.993T>C , LRG_504t1:c.993T>C	NP_000134.2:p.Thr331=
XM_011544132.1:c.765T>C	XP_011542434.1:p.Thr255=
XM_011544132.2:c.765T>C	XP_011542434.1:p.Thr255=
NM_000143.4:c.993T>C MANE Select	NP_000134.2:p.Thr331=