Canonical Allele Identifier: CA2575861073

Gene: FAH

Linked Data

• ClinVar Variation Id: 2808703
• ClinVar RCV Id: RCV003634602
• gnomAD v4: 15-80180106-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180106C>G , CM000677.2:g.80180106C>G	GRCh38
NC_000015.9:g.80472448C>G , CM000677.1:g.80472448C>G	GRCh37
NC_000015.8:g.78259503C>G	NCBI36
NG_012833.1:g.32108C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.1050-18C>G
ENST00000561421.6:c.961-18C>G MANE Select	ENSP00000453347.2:n.961-18C>G
ENST00000646551.1:n.2575-18C>G
ENST00000261755.9:c.961-18C>G	ENSP00000261755.5:n.961-18C>G
ENST00000407106.5:c.961-18C>G	ENSP00000385080.1:n.961-18C>G
ENST00000539156.5:c.751-18C>G	ENSP00000454271.1:n.751-18C>G
ENST00000559217.1:n.178-18C>G
ENST00000561353.2:c.59-18C>G
ENST00000561421.5:c.961-18C>G	ENSP00000453347.1:n.961-18C>G
NM_000137.2:c.961-18C>G	NP_000128.1:n.961-18C>G
XM_024449872.1:c.961-18C>G	XP_024305640.1:n.961-18C>G
NM_000137.4:c.961-18C>G MANE Select	NP_000128.1:n.961-18C>G
NM_001374377.1:c.961-18C>G	NP_001361306.1:n.961-18C>G
NM_001374380.1:c.961-18C>G	NP_001361309.1:n.961-18C>G