Canonical Allele Identifier: CA2629875088

Gene: FAH

Linked Data

• ClinVar Variation Id: 2675362
• ClinVar RCV Id: RCV003460110
• gnomAD v4: 15-80180161-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180164_80180165del , CM000677.2:g.80180164_80180165del	GRCh38
NC_000015.9:g.80472506_80472507del , CM000677.1:g.80472506_80472507del	GRCh37
NC_000015.8:g.78259561_78259562del	NCBI36
NG_012833.1:g.32166_32167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1090_1091del
ENST00000561421.6:c.1001_1002del MANE Select	ENSP00000453347.2:p.Ser334CysfsTer?
ENST00000646551.1:n.2615_2616del
ENST00000261755.9:c.1001_1002del	ENSP00000261755.5:p.Ser334CysfsTer?
ENST00000407106.5:c.1001_1002del	ENSP00000385080.1:p.Ser334CysfsTer?
ENST00000539156.5:c.791_792del	ENSP00000454271.1:p.Ser264CysfsTer?
ENST00000559217.1:n.218_219del
ENST00000561353.2:c.99_100del
ENST00000561421.5:c.1001_1002del	ENSP00000453347.1:p.Ser334CysfsTer?
NM_000137.2:c.1001_1002del	NP_000128.1:p.Ser334CysfsTer?
XM_024449872.1:c.1001_1002del	XP_024305640.1:p.Ser334CysfsTer?
NM_000137.4:c.1001_1002del MANE Select	NP_000128.1:p.Ser334CysfsTer?
NM_001374377.1:c.1001_1002del	NP_001361306.1:p.Ser334CysfsTer?
NM_001374380.1:c.1001_1002del	NP_001361309.1:p.Ser334CysfsTer?