Canonical Allele Identifier: CA10588291

Gene: FH

Linked Data

• ClinVar Variation Id: 265147
• ClinVar RCV Id: RCV000255892 ; RCV003456041 ; RCV003469195
• dbSNP Id: rs886039364
• MyVariant Identifiers: chr1:g.241671972_241671973del (hg19) ; chr1:g.241508672_241508673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508673_241508674del , CM000663.2:g.241508673_241508674del	GRCh38
NC_000001.10:g.241671973_241671974del , CM000663.1:g.241671973_241671974del	GRCh37
NC_000001.9:g.239738596_239738597del	NCBI36
NG_012338.1:g.16082_16083del , LRG_504:g.16082_16083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1171_1172del
ENST00000682162.1:c.697_698del	ENSP00000508203.1:n.697_698del
ENST00000682567.1:n.745_746del
ENST00000683521.1:c.668_669del	ENSP00000506864.1:p.Lys223ArgfsTer26
ENST00000684161.1:n.1883_1884del
ENST00000684483.1:c.*64_*65del	ENSP00000507894.1:n.*64_*65del
ENST00000366560.4:c.668_669del MANE Select	ENSP00000355518.4:p.Lys223ArgfsTer26
ENST00000366560.3:c.668_669del	ENSP00000355518.3:p.Lys223ArgfsTer26
NM_000143.3:c.668_669del , LRG_504t1:c.668_669del	NP_000134.2:p.Lys223ArgfsTer26
XM_011544132.1:c.440_441del	XP_011542434.1:p.Lys147ArgfsTer26
XM_011544132.2:c.440_441del	XP_011542434.1:p.Lys147ArgfsTer26
NM_000143.4:c.668_669del MANE Select	NP_000134.2:p.Lys223ArgfsTer26