Canonical Allele Identifier: CA345437965

Gene: FH

Linked Data

• ClinVar Variation Id: 644222
• ClinVar RCV Id: RCV002537079 ; RCV004555597
• dbSNP Id: rs1483975363
• gnomAD v2: 1-241667362-G-C
• gnomAD v3: 1-241504062-G-C
• gnomAD v4: 1-241504062-G-C
• MyVariant Identifiers: chr1:g.241667362G>C (hg19) ; chr1:g.241504062G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504062G>C , CM000663.2:g.241504062G>C	GRCh38
NC_000001.10:g.241667362G>C , CM000663.1:g.241667362G>C	GRCh37
NC_000001.9:g.239733985G>C	NCBI36
NG_012338.1:g.20693C>G , LRG_504:g.20693C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1591C>G
ENST00000682162.1:c.1117C>G	ENSP00000508203.1:n.1117C>G
ENST00000682567.1:n.1165C>G
ENST00000683521.1:c.1088C>G	ENSP00000506864.1:p.Pro363Arg
ENST00000684161.1:n.2303C>G
ENST00000684483.1:c.*484C>G	ENSP00000507894.1:n.*484C>G
ENST00000366560.4:c.1088C>G MANE Select	ENSP00000355518.4:p.Pro363Arg
ENST00000366560.3:c.1088C>G	ENSP00000355518.3:p.Pro363Arg
NM_000143.3:c.1088C>G , LRG_504t1:c.1088C>G	NP_000134.2:p.Pro363Arg
XM_011544132.1:c.860C>G	XP_011542434.1:p.Pro287Arg
XM_011544132.2:c.860C>G	XP_011542434.1:p.Pro287Arg
NM_000143.4:c.1088C>G MANE Select	NP_000134.2:p.Pro363Arg