Canonical Allele Identifier: CA321335

Gene: FH

Linked Data

• ClinVar Variation Id: 214391
• ClinVar RCV Id: RCV000196918 ; RCV002415845 ; RCV003468886
• dbSNP Id: rs202166344
• ExAC: 1:241683016 G / A
• gnomAD v2: 1-241683016-G-A
• gnomAD v4: 1-241519716-G-A
• MyVariant Identifiers: chr1:g.241683016G>A (hg19) ; chr1:g.241519716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519716G>A , CM000663.2:g.241519716G>A	GRCh38
NC_000001.10:g.241683016G>A , CM000663.1:g.241683016G>A	GRCh37
NC_000001.9:g.239749639G>A	NCBI36
NG_012338.1:g.5039C>T , LRG_504:g.5039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682162.1:c.7C>T	ENSP00000508203.1:p.Arg3Ter
ENST00000682567.1:n.84C>T
ENST00000683521.1:c.7C>T	ENSP00000506864.1:p.Arg3Ter
ENST00000684483.1:c.7C>T	ENSP00000507894.1:p.Arg3Ter
ENST00000366560.4:c.7C>T MANE Select	ENSP00000355518.4:p.Arg3Ter
ENST00000366560.3:c.7C>T	ENSP00000355518.3:p.Arg3Ter
NM_000143.3:c.7C>T , LRG_504t1:c.7C>T	NP_000134.2:p.Arg3Ter
NM_000143.4:c.7C>T MANE Select	NP_000134.2:p.Arg3Ter