Canonical Allele Identifier: CA916083444

Gene: FAH

Linked Data

• ClinVar Variation Id: 862144
• ClinVar RCV Id: RCV001068812
• dbSNP Id: rs2041131954

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159784del , CM000677.2:g.80159784del	GRCh38
NC_000015.9:g.80452126del , CM000677.1:g.80452126del	GRCh37
NC_000015.8:g.78239181del	NCBI36
NG_012833.1:g.11786del

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.221del	ENSP00000507680.1:p.Gly74ValfsTer18
ENST00000682012.1:n.296del
ENST00000683593.1:n.98del
ENST00000684363.1:c.221del	ENSP00000507314.1:p.Gly74ValfsTer18
ENST00000684569.1:n.266del
ENST00000561421.6:c.221del MANE Select	ENSP00000453347.2:p.Gly74ValfsTer18
ENST00000646551.1:n.1708del
ENST00000261755.9:c.221del	ENSP00000261755.5:p.Gly74ValfsTer18
ENST00000407106.5:c.221del	ENSP00000385080.1:p.Gly74ValfsTer18
ENST00000537726.5:n.303del
ENST00000539156.5:c.11del	ENSP00000454271.1:p.Gly4ValfsTer18
ENST00000558022.5:c.221del	ENSP00000453152.1:p.Gly74ValfsTer18
ENST00000558767.5:n.482del
ENST00000561369.1:n.301del
ENST00000561421.5:c.221del	ENSP00000453347.1:p.Gly74ValfsTer18
NM_000137.2:c.221del	NP_000128.1:p.Gly74ValfsTer18
XM_024449872.1:c.221del	XP_024305640.1:p.Gly74ValfsTer18
NM_000137.4:c.221del MANE Select	NP_000128.1:p.Gly74ValfsTer18
NM_001374377.1:c.221del	NP_001361306.1:p.Gly74ValfsTer18
NM_001374380.1:c.221del	NP_001361309.1:p.Gly74ValfsTer18