Canonical Allele Identifier: CA491682903

Gene: FAH

Linked Data

• ClinVar Variation Id: 1108771
• ClinVar RCV Id: RCV001434350
• dbSNP Id: rs2041213194
• gnomAD v4: 15-80168308-C-T
• MyVariant Identifiers: chr15:g.80460650C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168308C>T , CM000677.2:g.80168308C>T	GRCh38
NC_000015.9:g.80460650C>T , CM000677.1:g.80460650C>T	GRCh37
NC_000015.8:g.78247705C>T	NCBI36
NG_012833.1:g.20310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.787C>T
ENST00000684569.1:n.643C>T
ENST00000561421.6:c.598C>T MANE Select	ENSP00000453347.2:p.Leu200=
ENST00000646551.1:n.2225C>T
ENST00000261755.9:c.598C>T	ENSP00000261755.5:p.Leu200=
ENST00000407106.5:c.598C>T	ENSP00000385080.1:p.Leu200=
ENST00000539156.5:c.388C>T	ENSP00000454271.1:p.Leu130=
ENST00000558514.1:n.144C>T
ENST00000558627.1:n.526C>T
ENST00000561421.5:c.598C>T	ENSP00000453347.1:p.Leu200=
NM_000137.2:c.598C>T	NP_000128.1:p.Leu200=
XM_024449872.1:c.598C>T	XP_024305640.1:p.Leu200=
NM_000137.4:c.598C>T MANE Select	NP_000128.1:p.Leu200=
NM_001374377.1:c.598C>T	NP_001361306.1:p.Leu200=
NM_001374380.1:c.598C>T	NP_001361309.1:p.Leu200=