Canonical Allele Identifier: CA220370

Gene: FAH

Linked Data

• ClinVar Variation Id: 92445
• ClinVar RCV Id: RCV000179256 ; RCV000627249
• dbSNP Id: rs370686447
• ExAC: 15:80460394 G / A
• gnomAD v2: 15-80460394-G-A
• gnomAD v4: 15-80168052-G-A
• MyVariant Identifiers: chr15:g.80460394G>A (hg19) ; chr15:g.80168052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168052G>A , CM000677.2:g.80168052G>A	GRCh38
NC_000015.9:g.80460394G>A , CM000677.1:g.80460394G>A	GRCh37
NC_000015.8:g.78247449G>A	NCBI36
NG_012833.1:g.20054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.531G>A
ENST00000684569.1:n.501G>A
ENST00000561421.6:c.456G>A MANE Select	ENSP00000453347.2:p.Trp152Ter
ENST00000646551.1:n.2083G>A
ENST00000261755.9:c.456G>A	ENSP00000261755.5:p.Trp152Ter
ENST00000407106.5:c.456G>A	ENSP00000385080.1:p.Trp152Ter
ENST00000539156.5:c.246G>A	ENSP00000454271.1:p.Trp82Ter
ENST00000558022.5:c.456G>A	ENSP00000453152.1:p.Trp152Ter
ENST00000558514.1:n.2G>A
ENST00000558627.1:n.384G>A
ENST00000561421.5:c.456G>A	ENSP00000453347.1:p.Trp152Ter
NM_000137.2:c.456G>A	NP_000128.1:p.Trp152Ter
XM_024449872.1:c.456G>A	XP_024305640.1:p.Trp152Ter
NM_000137.4:c.456G>A MANE Select	NP_000128.1:p.Trp152Ter
NM_001374377.1:c.456G>A	NP_001361306.1:p.Trp152Ter
NM_001374380.1:c.456G>A	NP_001361309.1:p.Trp152Ter