Canonical Allele Identifier: CA233966

Gene: FAH

Linked Data

• ClinVar Variation Id: 21054
• ClinVar RCV Id: RCV000020126 ; RCV000153218
• dbSNP Id: rs80338894
• ExAC: 15:80450512 G / T
• gnomAD v2: 15-80450512-G-T
• gnomAD v3: 15-80158170-G-T
• gnomAD v4: 15-80158170-G-T
• MyVariant Identifiers: chr15:g.80450512G>T (hg19) ; chr15:g.80158170G>T (hg38)
• PubMed: PMID:7942842 ; PMID:8829657 ; PMID:20301688 ; PMID:26565546

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80158170G>T , CM000677.2:g.80158170G>T	GRCh38
NC_000015.9:g.80450512G>T , CM000677.1:g.80450512G>T	GRCh37
NC_000015.8:g.78237567G>T	NCBI36
NG_012833.1:g.10172G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.192G>T	ENSP00000507680.1:p.Gln64His
ENST00000682012.1:n.267G>T
ENST00000683593.1:n.69G>T
ENST00000684363.1:c.192G>T	ENSP00000507314.1:p.Gln64His
ENST00000684569.1:n.237G>T
ENST00000561421.6:c.192G>T MANE Select	ENSP00000453347.2:p.Gln64His
ENST00000646551.1:n.1679G>T
ENST00000261755.9:c.192G>T	ENSP00000261755.5:p.Gln64His
ENST00000407106.5:c.192G>T	ENSP00000385080.1:p.Gln64His
ENST00000537726.5:n.274G>T
ENST00000539156.5:c.-19G>T	ENSP00000454271.1:n.-19G>T
ENST00000558022.5:c.192G>T	ENSP00000453152.1:p.Gln64His
ENST00000558767.5:n.453G>T
ENST00000561369.1:n.272G>T
ENST00000561421.5:c.192G>T	ENSP00000453347.1:p.Gln64His
NM_000137.2:c.192G>T	NP_000128.1:p.Gln64His
XM_024449872.1:c.192G>T	XP_024305640.1:p.Gln64His
NM_000137.4:c.192G>T MANE Select	NP_000128.1:p.Gln64His
NM_001374377.1:c.192G>T	NP_001361306.1:p.Gln64His
NM_001374380.1:c.192G>T	NP_001361309.1:p.Gln64His