Canonical Allele Identifier: CA319970

Gene: FH

Linked Data

• ClinVar Variation Id: 214430
• ClinVar RCV Id: RCV000195609 ; RCV000204400 ; RCV000346414 ; RCV000568788 ; RCV001818470
• dbSNP Id: rs202166344
• ExAC: 1:241683016 G / C
• gnomAD v2: 1-241683016-G-C
• gnomAD v3: 1-241519716-G-C
• gnomAD v4: 1-241519716-G-C
• MyVariant Identifiers: chr1:g.241683016G>C (hg19) ; chr1:g.241519716G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682162.1:c.7C>G	ENSP00000508203.1:p.Arg3Gly
ENST00000682567.1:n.84C>G
ENST00000683521.1:c.7C>G	ENSP00000506864.1:p.Arg3Gly
ENST00000684483.1:c.7C>G	ENSP00000507894.1:p.Arg3Gly
ENST00000366560.4:c.7C>G MANE Select	ENSP00000355518.4:p.Arg3Gly
ENST00000366560.3:c.7C>G	ENSP00000355518.3:p.Arg3Gly
NM_000143.3:c.7C>G , LRG_504t1:c.7C>G	NP_000134.2:p.Arg3Gly
NM_000143.4:c.7C>G MANE Select	NP_000134.2:p.Arg3Gly