Canonical Allele Identifier: CA971894404

Gene: FAH

Linked Data

• dbSNP Id: rs2041061832
• gnomAD v3: 15-80152831-C-G
• gnomAD v4: 15-80152831-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152831C>G , CM000677.2:g.80152831C>G	GRCh38
NC_000015.9:g.80445173C>G , CM000677.1:g.80445173C>G	GRCh37
NC_000015.8:g.78232228C>G	NCBI36
NG_012833.1:g.4833C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-224C>G	ENSP00000507680.1:n.-224C>G
ENST00000261755.9:c.-40C>G	ENSP00000261755.5:n.-40C>G
ENST00000407106.5:c.-104C>G	ENSP00000385080.1:n.-104C>G
ENST00000537726.5:n.43C>G
ENST00000558022.5:c.-29-195C>G	ENSP00000453152.1:n.-29-195C>G
ENST00000558767.5:n.38C>G
XM_024449872.1:c.-104C>G	XP_024305640.1:n.-104C>G
NM_001374377.1:c.-104C>G	NP_001361306.1:n.-104C>G
NM_001374380.1:c.-40C>G	NP_001361309.1:n.-40C>G