Canonical Allele Identifier: CA733645624

Gene: FH

Linked Data

• dbSNP Id: rs1205296710
• MyVariant Identifiers: chr1:g.241680575_241680576insC (hg19) ; chr1:g.241517275_241517276insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517277dup , CM000663.2:g.241517277dup	GRCh38
NC_000001.10:g.241680577dup , CM000663.1:g.241680577dup	GRCh37
NC_000001.9:g.239747200dup	NCBI36
NG_012338.1:g.7479dup , LRG_504:g.7479dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.676dup
ENST00000682162.1:c.202dup	ENSP00000508203.1:n.202dup
ENST00000682567.1:n.250dup
ENST00000683521.1:c.173dup	ENSP00000506864.1:p.Glu59Ter
ENST00000684483.1:c.173dup	ENSP00000507894.1:p.Glu59Ter
ENST00000366560.4:c.173dup MANE Select	ENSP00000355518.4:p.Glu59Ter
ENST00000366560.3:c.173dup	ENSP00000355518.3:p.Glu59Ter
ENST00000493477.1:n.286dup
NM_000143.3:c.173dup , LRG_504t1:c.173dup	NP_000134.2:p.Glu59Ter
XM_011544132.1:c.-56dup	XP_011542434.1:n.-56dup
XM_011544132.2:c.-56dup	XP_011542434.1:n.-56dup
NM_000143.4:c.173dup MANE Select	NP_000134.2:p.Glu59Ter