Canonical Allele Identifier: CA233991

Gene: FH

Linked Data

• ClinVar Variation Id: 167067
• ClinVar RCV Id: RCV000153236
• dbSNP Id: rs727503928
• MyVariant Identifiers: chr1:g.241671904del (hg19) ; chr1:g.241671904delT (hg19) ; chr1:g.241508604del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508604del , CM000663.2:g.241508604del	GRCh38
NC_000001.10:g.241671904del , CM000663.1:g.241671904del	GRCh37
NC_000001.9:g.239738527del	NCBI36
NG_012338.1:g.16151del , LRG_504:g.16151del

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1240del
ENST00000682162.1:c.766del	ENSP00000508203.1:n.766del
ENST00000682567.1:n.814del
ENST00000683521.1:c.737del	ENSP00000506864.1:p.Gln246ArgfsTer10
ENST00000684161.1:n.1952del
ENST00000684483.1:c.*133del	ENSP00000507894.1:n.*133del
ENST00000366560.4:c.737del MANE Select	ENSP00000355518.4:p.Gln246ArgfsTer10
ENST00000366560.3:c.737del	ENSP00000355518.3:p.Gln246ArgfsTer10
NM_000143.3:c.737del , LRG_504t1:c.737del	NP_000134.2:p.Gln246ArgfsTer10
XM_011544132.1:c.509del	XP_011542434.1:p.Gln170ArgfsTer10
XM_011544132.2:c.509del	XP_011542434.1:p.Gln170ArgfsTer10
NM_000143.4:c.737del MANE Select	NP_000134.2:p.Gln246ArgfsTer10