Canonical Allele Identifier: CA159743

Gene: FH

Linked Data

• ClinVar Variation Id: 134416
• ClinVar RCV Id: RCV000121092 ; RCV000575122 ; RCV001061733 ; RCV001558721
• dbSNP Id: rs201975537
• ExAC: 1:241667437 A / G
• gnomAD v2: 1-241667437-A-G
• gnomAD v3: 1-241504137-A-G
• gnomAD v4: 1-241504137-A-G
• MyVariant Identifiers: chr1:g.241667437A>G (hg19) ; chr1:g.241504137A>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504137A>G , CM000663.2:g.241504137A>G	GRCh38
NC_000001.10:g.241667437A>G , CM000663.1:g.241667437A>G	GRCh37
NC_000001.9:g.239734060A>G	NCBI36
NG_012338.1:g.20618T>C , LRG_504:g.20618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1516T>C
ENST00000682162.1:c.1042T>C	ENSP00000508203.1:n.1042T>C
ENST00000682567.1:n.1090T>C
ENST00000683521.1:c.1013T>C	ENSP00000506864.1:p.Ile338Thr
ENST00000684161.1:n.2228T>C
ENST00000684483.1:c.*409T>C	ENSP00000507894.1:n.*409T>C
ENST00000366560.4:c.1013T>C MANE Select	ENSP00000355518.4:p.Ile338Thr
ENST00000366560.3:c.1013T>C	ENSP00000355518.3:p.Ile338Thr
NM_000143.3:c.1013T>C , LRG_504t1:c.1013T>C	NP_000134.2:p.Ile338Thr
XM_011544132.1:c.785T>C	XP_011542434.1:p.Ile262Thr
XM_011544132.2:c.785T>C	XP_011542434.1:p.Ile262Thr
NM_000143.4:c.1013T>C MANE Select	NP_000134.2:p.Ile338Thr