Canonical Allele Identifier: CA971893349

Gene: FAH

Linked Data

• dbSNP Id: rs2041055807
• gnomAD v3: 15-80152556-CAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG-C
• gnomAD v4: 15-80152556-CAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152587_80152669del , CM000677.2:g.80152587_80152669del	GRCh38
NC_000015.9:g.80444929_80445011del , CM000677.1:g.80444929_80445011del	GRCh37
NC_000015.8:g.78231984_78232066del	NCBI36
NG_012833.1:g.4589_4671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+42_-30+124del	ENSP00000453152.1:n.-30+42_-30+124del