Canonical Allele Identifier: CA10602767

Gene: FH

Linked Data

• ClinVar Variation Id: 280929
• ClinVar RCV Id: RCV000291565
• dbSNP Id: rs886042044
• MyVariant Identifiers: chr1:g.241667505_241667506del (hg19) ; chr1:g.241504205_241504206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504205_241504206del , CM000663.2:g.241504205_241504206del	GRCh38
NC_000001.10:g.241667505_241667506del , CM000663.1:g.241667505_241667506del	GRCh37
NC_000001.9:g.239734128_239734129del	NCBI36
NG_012338.1:g.20549_20550del , LRG_504:g.20549_20550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1447_1448del
ENST00000682162.1:c.973_974del	ENSP00000508203.1:n.973_974del
ENST00000682567.1:n.1021_1022del
ENST00000683521.1:c.944_945del	ENSP00000506864.1:p.Leu315ArgfsTer4
ENST00000684161.1:n.2159_2160del
ENST00000684483.1:c.*340_*341del	ENSP00000507894.1:n.*340_*341del
ENST00000366560.4:c.944_945del MANE Select	ENSP00000355518.4:p.Leu315ArgfsTer4
ENST00000366560.3:c.944_945del	ENSP00000355518.3:p.Leu315ArgfsTer4
NM_000143.3:c.944_945del , LRG_504t1:c.944_945del	NP_000134.2:p.Leu315ArgfsTer4
XM_011544132.1:c.716_717del	XP_011542434.1:p.Leu239ArgfsTer4
XM_011544132.2:c.716_717del	XP_011542434.1:p.Leu239ArgfsTer4
NM_000143.4:c.944_945del MANE Select	NP_000134.2:p.Leu315ArgfsTer4