Canonical Allele Identifier: CA345439239

Gene: FH

Linked Data

• ClinVar Variation Id: 570079
• ClinVar RCV Id: RCV002360738 ; RCV002547160
• dbSNP Id: rs755587163
• gnomAD v4: 1-241508654-G-C
• MyVariant Identifiers: chr1:g.241671954G>C (hg19) ; chr1:g.241508654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508654G>C , CM000663.2:g.241508654G>C	GRCh38
NC_000001.10:g.241671954G>C , CM000663.1:g.241671954G>C	GRCh37
NC_000001.9:g.239738577G>C	NCBI36
NG_012338.1:g.16101C>G , LRG_504:g.16101C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1190C>G
ENST00000682162.1:c.716C>G	ENSP00000508203.1:n.716C>G
ENST00000682567.1:n.764C>G
ENST00000683521.1:c.687C>G	ENSP00000506864.1:p.Ile229Met
ENST00000684161.1:n.1902C>G
ENST00000684483.1:c.*83C>G	ENSP00000507894.1:n.*83C>G
ENST00000366560.4:c.687C>G MANE Select	ENSP00000355518.4:p.Ile229Met
ENST00000366560.3:c.687C>G	ENSP00000355518.3:p.Ile229Met
NM_000143.3:c.687C>G , LRG_504t1:c.687C>G	NP_000134.2:p.Ile229Met
XM_011544132.1:c.459C>G	XP_011542434.1:p.Ile153Met
XM_011544132.2:c.459C>G	XP_011542434.1:p.Ile153Met
NM_000143.4:c.687C>G MANE Select	NP_000134.2:p.Ile229Met