Canonical Allele Identifier: CA345439232

Gene: FH

Linked Data

• ClinVar Variation Id: 1214458
• ClinVar RCV Id: RCV001583548 ; RCV001832810 ; RCV002370228
• dbSNP Id: rs1659991322
• MyVariant Identifiers: chr1:g.241671950T>G (hg19) ; chr1:g.241508650T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508650T>G , CM000663.2:g.241508650T>G	GRCh38
NC_000001.10:g.241671950T>G , CM000663.1:g.241671950T>G	GRCh37
NC_000001.9:g.239738573T>G	NCBI36
NG_012338.1:g.16105A>C , LRG_504:g.16105A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1194A>C
ENST00000682162.1:c.720A>C	ENSP00000508203.1:n.720A>C
ENST00000682567.1:n.768A>C
ENST00000683521.1:c.691A>C	ENSP00000506864.1:p.Ile231Leu
ENST00000684161.1:n.1906A>C
ENST00000684483.1:c.*87A>C	ENSP00000507894.1:n.*87A>C
ENST00000366560.4:c.691A>C MANE Select	ENSP00000355518.4:p.Ile231Leu
ENST00000366560.3:c.691A>C	ENSP00000355518.3:p.Ile231Leu
NM_000143.3:c.691A>C , LRG_504t1:c.691A>C	NP_000134.2:p.Ile231Leu
XM_011544132.1:c.463A>C	XP_011542434.1:p.Ile155Leu
XM_011544132.2:c.463A>C	XP_011542434.1:p.Ile155Leu
NM_000143.4:c.691A>C MANE Select	NP_000134.2:p.Ile231Leu