Canonical Allele Identifier: CA1478785

Gene: FH

Linked Data

• ClinVar Variation Id: 460359
• ClinVar RCV Id: RCV001023401 ; RCV003459206 ; RCV004555584 ; RCV001662540
• dbSNP Id: rs112335468
• ExAC: 1:241683019 A / G
• gnomAD v2: 1-241683019-A-G
• gnomAD v3: 1-241519719-A-G
• gnomAD v4: 1-241519719-A-G
• MyVariant Identifiers: chr1:g.241683019A>G (hg19) ; chr1:g.241519719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519719A>G , CM000663.2:g.241519719A>G	GRCh38
NC_000001.10:g.241683019A>G , CM000663.1:g.241683019A>G	GRCh37
NC_000001.9:g.239749642A>G	NCBI36
NG_012338.1:g.5036T>C , LRG_504:g.5036T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682162.1:c.4T>C	ENSP00000508203.1:p.Tyr2His
ENST00000682567.1:n.81T>C
ENST00000683521.1:c.4T>C	ENSP00000506864.1:p.Tyr2His
ENST00000684483.1:c.4T>C	ENSP00000507894.1:p.Tyr2His
ENST00000366560.4:c.4T>C MANE Select	ENSP00000355518.4:p.Tyr2His
ENST00000366560.3:c.4T>C	ENSP00000355518.3:p.Tyr2His
NM_000143.3:c.4T>C , LRG_504t1:c.4T>C	NP_000134.2:p.Tyr2His
NM_000143.4:c.4T>C MANE Select	NP_000134.2:p.Tyr2His