Canonical Allele Identifier: CA220369

Gene: FAH

Linked Data

• ClinVar Variation Id: 11870
• ClinVar RCV Id: RCV000012645 ; RCV000078135 ; RCV003407317
• dbSNP Id: rs80338901
• ExAC: 15:80472572 G / A
• gnomAD v2: 15-80472572-G-A
• gnomAD v3: 15-80180230-G-A
• gnomAD v4: 15-80180230-G-A
• COSMIC: COSM3377674
• MyVariant Identifiers: chr15:g.80472572G>A (hg19) ; chr15:g.80180230G>A (hg38)
• PubMed: PMID:7757089 ; PMID:8028615 ; PMID:8318997 ; PMID:8821854 ; PMID:8829657 ; PMID:9633815 ; PMID:9705236 ; PMID:11278491 ; PMID:11754109 ; PMID:12203990 ; PMID:15638932 ; PMID:20301688 ; PMID:21752152 ; PMID:22554029 ; PMID:23430822 ; PMID:23895425 ; PMID:25081276 ; PMID:27814443

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180230G>A , CM000677.2:g.80180230G>A	GRCh38
NC_000015.9:g.80472572G>A , CM000677.1:g.80472572G>A	GRCh37
NC_000015.8:g.78259627G>A	NCBI36
NG_012833.1:g.32232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1151+5G>A
ENST00000561421.6:c.1062+5G>A MANE Select	ENSP00000453347.2:n.1062+5G>A
ENST00000646551.1:n.2676+5G>A
ENST00000261755.9:c.1062+5G>A	ENSP00000261755.5:n.1062+5G>A
ENST00000407106.5:c.1062+5G>A	ENSP00000385080.1:n.1062+5G>A
ENST00000539156.5:c.852+5G>A	ENSP00000454271.1:n.852+5G>A
ENST00000559217.1:n.279+5G>A
ENST00000561353.2:c.165G>A
ENST00000561421.5:c.1062+5G>A	ENSP00000453347.1:n.1062+5G>A
NM_000137.2:c.1062+5G>A	NP_000128.1:n.1062+5G>A
XM_024449872.1:c.1062+5G>A	XP_024305640.1:n.1062+5G>A
NM_000137.4:c.1062+5G>A MANE Select	NP_000128.1:n.1062+5G>A
NM_001374377.1:c.1062+5G>A	NP_001361306.1:n.1062+5G>A
NM_001374380.1:c.1062+5G>A	NP_001361309.1:n.1062+5G>A