Canonical Allele Identifier: CA1478602

Gene: FH

Linked Data

• ClinVar Variation Id: 460378
• ClinVar RCV Id: RCV000525718 ; RCV000573963 ; RCV001551931
• dbSNP Id: rs202060616
• ExAC: 1:241669398 T / C
• gnomAD v2: 1-241669398-T-C
• gnomAD v3: 1-241506098-T-C
• gnomAD v4: 1-241506098-T-C
• MyVariant Identifiers: chr1:g.241669398T>C (hg19) ; chr1:g.241506098T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241506098T>C , CM000663.2:g.241506098T>C	GRCh38
NC_000001.10:g.241669398T>C , CM000663.1:g.241669398T>C	GRCh37
NC_000001.9:g.239736021T>C	NCBI36
NG_012338.1:g.18657A>G , LRG_504:g.18657A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1312A>G
ENST00000682162.1:c.838A>G	ENSP00000508203.1:n.838A>G
ENST00000682567.1:n.886A>G
ENST00000683521.1:c.809A>G	ENSP00000506864.1:p.Tyr270Cys
ENST00000684161.1:n.2024A>G
ENST00000684483.1:c.*205A>G	ENSP00000507894.1:n.*205A>G
ENST00000366560.4:c.809A>G MANE Select	ENSP00000355518.4:p.Tyr270Cys
ENST00000366560.3:c.809A>G	ENSP00000355518.3:p.Tyr270Cys
NM_000143.3:c.809A>G , LRG_504t1:c.809A>G	NP_000134.2:p.Tyr270Cys
XM_011544132.1:c.581A>G	XP_011542434.1:p.Tyr194Cys
XM_011544132.2:c.581A>G	XP_011542434.1:p.Tyr194Cys
NM_000143.4:c.809A>G MANE Select	NP_000134.2:p.Tyr270Cys