Canonical Allele Identifier: CA7691150

Gene: FAH

Linked Data

• ClinVar Variation Id: 290073
• ClinVar RCV Id: RCV000373443 ; RCV001363290
• dbSNP Id: rs143243347
• ExAC: 15:80454635 G / A
• gnomAD v2: 15-80454635-G-A
• gnomAD v3: 15-80162293-G-A
• gnomAD v4: 15-80162293-G-A
• MyVariant Identifiers: chr15:g.80454635G>A (hg19) ; chr15:g.80162293G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162293G>A , CM000677.2:g.80162293G>A	GRCh38
NC_000015.9:g.80454635G>A , CM000677.1:g.80454635G>A	GRCh37
NC_000015.8:g.78241690G>A	NCBI36
NG_012833.1:g.14295G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.412G>A	ENSP00000507680.1:p.Gly138Arg
ENST00000682012.1:n.487G>A
ENST00000683593.1:n.2075G>A
ENST00000684363.1:c.365-99G>A	ENSP00000507314.1:n.365-99G>A
ENST00000684569.1:n.457G>A
ENST00000561421.6:c.412G>A MANE Select	ENSP00000453347.2:p.Gly138Arg
ENST00000646551.1:n.1899G>A
ENST00000261755.9:c.412G>A	ENSP00000261755.5:p.Gly138Arg
ENST00000407106.5:c.412G>A	ENSP00000385080.1:p.Gly138Arg
ENST00000537726.5:n.558G>A
ENST00000539156.5:c.202G>A	ENSP00000454271.1:p.Gly68Arg
ENST00000558022.5:c.412G>A	ENSP00000453152.1:p.Gly138Arg
ENST00000558627.1:n.340G>A
ENST00000558767.5:n.673G>A
ENST00000561369.1:n.556G>A
ENST00000561421.5:c.412G>A	ENSP00000453347.1:p.Gly138Arg
NM_000137.2:c.412G>A	NP_000128.1:p.Gly138Arg
XM_024449872.1:c.412G>A	XP_024305640.1:p.Gly138Arg
NM_000137.4:c.412G>A MANE Select	NP_000128.1:p.Gly138Arg
NM_001374377.1:c.412G>A	NP_001361306.1:p.Gly138Arg
NM_001374380.1:c.412G>A	NP_001361309.1:p.Gly138Arg