Canonical Allele Identifier: CA1139664106

Gene: FAH

Linked Data

• ClinVar Variation Id: 957168
• ClinVar RCV Id: RCV001230099
• dbSNP Id: rs2041210282

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168131_80168132del , CM000677.2:g.80168131_80168132del	GRCh38
NC_000015.9:g.80460473_80460474del , CM000677.1:g.80460473_80460474del	GRCh37
NC_000015.8:g.78247528_78247529del	NCBI36
NG_012833.1:g.20133_20134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.610_611del
ENST00000684569.1:n.580_581del
ENST00000561421.6:c.535_536del MANE Select	ENSP00000453347.2:p.Gln179AspfsTer4
ENST00000646551.1:n.2162_2163del
ENST00000261755.9:c.535_536del	ENSP00000261755.5:p.Gln179AspfsTer4
ENST00000407106.5:c.535_536del	ENSP00000385080.1:p.Gln179AspfsTer4
ENST00000539156.5:c.325_326del	ENSP00000454271.1:p.Gln109AspfsTer4
ENST00000558514.1:n.81_82del
ENST00000558627.1:n.463_464del
ENST00000561421.5:c.535_536del	ENSP00000453347.1:p.Gln179AspfsTer4
NM_000137.2:c.535_536del	NP_000128.1:p.Gln179AspfsTer4
XM_024449872.1:c.535_536del	XP_024305640.1:p.Gln179AspfsTer4
NM_000137.4:c.535_536del MANE Select	NP_000128.1:p.Gln179AspfsTer4
NM_001374377.1:c.535_536del	NP_001361306.1:p.Gln179AspfsTer4
NM_001374380.1:c.535_536del	NP_001361309.1:p.Gln179AspfsTer4