Canonical Allele Identifier: CA2190327804

Gene: FAH

Linked Data

• dbSNP Id: rs2041063839
• gnomAD v4: 15-80152985-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152985C>G , CM000677.2:g.80152985C>G	GRCh38
NC_000015.9:g.80445327C>G , CM000677.1:g.80445327C>G	GRCh37
NC_000015.8:g.78232382C>G	NCBI36
NG_012833.1:g.4987C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.-70C>G	ENSP00000507680.1:n.-70C>G
ENST00000682012.1:n.6C>G
ENST00000261755.9:c.-29-41C>G	ENSP00000261755.5:n.-29-41C>G
ENST00000407106.5:c.-29-41C>G	ENSP00000385080.1:n.-29-41C>G
ENST00000537726.5:n.54-41C>G
ENST00000558022.5:c.-29-41C>G	ENSP00000453152.1:n.-29-41C>G
ENST00000558767.5:n.192C>G
ENST00000561369.1:n.52-41C>G
ENST00000561421.5:c.-70C>G	ENSP00000453347.1:n.-70C>G
NM_000137.2:c.-70C>G	NP_000128.1:n.-70C>G
XM_024449872.1:c.-29-41C>G	XP_024305640.1:n.-29-41C>G
NM_001374377.1:c.-29-41C>G	NP_001361306.1:n.-29-41C>G
NM_001374380.1:c.-29-41C>G	NP_001361309.1:n.-29-41C>G