Canonical Allele Identifier: CA971893488

Gene: FAH

Linked Data

• dbSNP Id: rs2041056328
• gnomAD v3: 15-80152581-GGAGGGAGAGACTGGATGACCTGGGGCTTGCAA-G
• gnomAD v4: 15-80152581-GGAGGGAGAGACTGGATGACCTGGGGCTTGCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152583_80152614del , CM000677.2:g.80152583_80152614del	GRCh38
NC_000015.9:g.80444925_80444956del , CM000677.1:g.80444925_80444956del	GRCh37
NC_000015.8:g.78231980_78232011del	NCBI36
NG_012833.1:g.4585_4616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+38_-30+69del	ENSP00000453152.1:n.-30+38_-30+69del