Canonical Allele Identifier: CA341149

Gene: FAH

Linked Data

• ClinVar Variation Id: 11873
• ClinVar RCV Id: RCV000012648
• dbSNP Id: rs80338899
• ExAC: 15:80465435 G / A
• gnomAD v2: 15-80465435-G-A
• gnomAD v3: 15-80173093-G-A
• gnomAD v4: 15-80173093-G-A
• MyVariant Identifiers: chr15:g.80465435G>A (hg19) ; chr15:g.80173093G>A (hg38)
• PubMed: PMID:7942842 ; PMID:8162054 ; PMID:8723698 ; PMID:8829657 ; PMID:15465000 ; PMID:15638932 ; PMID:20301688

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80173093G>A , CM000677.2:g.80173093G>A	GRCh38
NC_000015.9:g.80465435G>A , CM000677.1:g.80465435G>A	GRCh37
NC_000015.8:g.78252490G>A	NCBI36
NG_012833.1:g.25095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.875G>A
ENST00000561421.6:c.786G>A MANE Select	ENSP00000453347.2:p.Trp262Ter
ENST00000646551.1:n.2400G>A
ENST00000261755.9:c.786G>A	ENSP00000261755.5:p.Trp262Ter
ENST00000407106.5:c.786G>A	ENSP00000385080.1:p.Trp262Ter
ENST00000539156.5:c.576G>A	ENSP00000454271.1:p.Trp192Ter
ENST00000558627.1:n.714G>A
ENST00000559542.1:n.122G>A
ENST00000561421.5:c.786G>A	ENSP00000453347.1:p.Trp262Ter
NM_000137.2:c.786G>A	NP_000128.1:p.Trp262Ter
XM_024449872.1:c.786G>A	XP_024305640.1:p.Trp262Ter
NM_000137.4:c.786G>A MANE Select	NP_000128.1:p.Trp262Ter
NM_001374377.1:c.786G>A	NP_001361306.1:p.Trp262Ter
NM_001374380.1:c.786G>A	NP_001361309.1:p.Trp262Ter