Canonical Allele Identifier: CA345437348

Gene: FH

Linked Data

• ClinVar Variation Id: 1044995
• ClinVar RCV Id: RCV002350651 ; RCV002545608
• dbSNP Id: rs1659805291
• gnomAD v4: 1-241502479-A-C
• MyVariant Identifiers: chr1:g.241665779A>C (hg19) ; chr1:g.241502479A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502479A>C , CM000663.2:g.241502479A>C	GRCh38
NC_000001.10:g.241665779A>C , CM000663.1:g.241665779A>C	GRCh37
NC_000001.9:g.239732402A>C	NCBI36
NG_012338.1:g.22276T>G , LRG_504:g.22276T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1703T>G
ENST00000682162.1:c.1229T>G	ENSP00000508203.1:n.1229T>G
ENST00000682567.1:n.2748T>G
ENST00000683521.1:c.1200T>G	ENSP00000506864.1:p.Asn400Lys
ENST00000684161.1:n.2415T>G
ENST00000684483.1:c.*596T>G	ENSP00000507894.1:n.*596T>G
ENST00000366560.4:c.1200T>G MANE Select	ENSP00000355518.4:p.Asn400Lys
ENST00000366560.3:c.1200T>G	ENSP00000355518.3:p.Asn400Lys
NM_000143.3:c.1200T>G , LRG_504t1:c.1200T>G	NP_000134.2:p.Asn400Lys
XM_011544132.1:c.972T>G	XP_011542434.1:p.Asn324Lys
XM_011544132.2:c.972T>G	XP_011542434.1:p.Asn324Lys
NM_000143.4:c.1200T>G MANE Select	NP_000134.2:p.Asn400Lys