Canonical Allele Identifier: CA2190327616

Gene: FAH

Linked Data

• dbSNP Id: rs1047324737
• gnomAD v4: 15-80152887-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152887C>T , CM000677.2:g.80152887C>T	GRCh38
NC_000015.9:g.80445229C>T , CM000677.1:g.80445229C>T	GRCh37
NC_000015.8:g.78232284C>T	NCBI36
NG_012833.1:g.4889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-168C>T	ENSP00000507680.1:n.-168C>T
ENST00000261755.9:c.-30+46C>T	ENSP00000261755.5:n.-30+46C>T
ENST00000407106.5:c.-48C>T	ENSP00000385080.1:n.-48C>T
ENST00000537726.5:n.53+46C>T
ENST00000558022.5:c.-29-139C>T	ENSP00000453152.1:n.-29-139C>T
ENST00000558767.5:n.94C>T
ENST00000561369.1:n.33C>T
XM_024449872.1:c.-48C>T	XP_024305640.1:n.-48C>T
NM_001374377.1:c.-48C>T	NP_001361306.1:n.-48C>T
NM_001374380.1:c.-30+46C>T	NP_001361309.1:n.-30+46C>T