Canonical Allele Identifier: CA2190327447

Gene: FAH

Linked Data

• dbSNP Id: rs2041061763
• gnomAD v4: 15-80152821-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152821C>T , CM000677.2:g.80152821C>T	GRCh38
NC_000015.9:g.80445163C>T , CM000677.1:g.80445163C>T	GRCh37
NC_000015.8:g.78232218C>T	NCBI36
NG_012833.1:g.4823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-234C>T	ENSP00000507680.1:n.-234C>T
ENST00000261755.9:c.-50C>T	ENSP00000261755.5:n.-50C>T
ENST00000407106.5:c.-114C>T	ENSP00000385080.1:n.-114C>T
ENST00000537726.5:n.33C>T
ENST00000558022.5:c.-29-205C>T	ENSP00000453152.1:n.-29-205C>T
ENST00000558767.5:n.28C>T
NM_001374377.1:c.-114C>T	NP_001361306.1:n.-114C>T
NM_001374380.1:c.-50C>T	NP_001361309.1:n.-50C>T