Canonical Allele Identifier: CA971893366

Gene: FAH

Linked Data

• dbSNP Id: rs2041055993
• gnomAD v3: 15-80152562-AGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC-A
• gnomAD v4: 15-80152562-AGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152575_80152792del , CM000677.2:g.80152575_80152792del	GRCh38
NC_000015.9:g.80444917_80445134del , CM000677.1:g.80444917_80445134del	GRCh37
NC_000015.8:g.78231972_78232189del	NCBI36
NG_012833.1:g.4577_4794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+30_-29-234del	ENSP00000453152.1:n.-30+30_-29-234del