Canonical Allele Identifier: CA2739269609

Gene: FAH

Linked Data

• ClinVar Variation Id: 2816994
• ClinVar RCV Id: RCV003634726

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168333T>G , CM000677.2:g.80168333T>G	GRCh38
NC_000015.9:g.80460675T>G , CM000677.1:g.80460675T>G	GRCh37
NC_000015.8:g.78247730T>G	NCBI36
NG_012833.1:g.20335T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+17T>G
ENST00000684569.1:n.651+17T>G
ENST00000561421.6:c.606+17T>G MANE Select	ENSP00000453347.2:n.606+17T>G
ENST00000646551.1:n.2233+17T>G
ENST00000261755.9:c.606+17T>G	ENSP00000261755.5:n.606+17T>G
ENST00000407106.5:c.606+17T>G	ENSP00000385080.1:n.606+17T>G
ENST00000539156.5:c.396+17T>G	ENSP00000454271.1:n.396+17T>G
ENST00000558514.1:n.169T>G
ENST00000558627.1:n.534+17T>G
ENST00000561421.5:c.606+17T>G	ENSP00000453347.1:n.606+17T>G
NM_000137.2:c.606+17T>G	NP_000128.1:n.606+17T>G
XM_024449872.1:c.606+17T>G	XP_024305640.1:n.606+17T>G
NM_000137.4:c.606+17T>G MANE Select	NP_000128.1:n.606+17T>G
NM_001374377.1:c.606+17T>G	NP_001361306.1:n.606+17T>G
NM_001374380.1:c.606+17T>G	NP_001361309.1:n.606+17T>G