Canonical Allele Identifier: CA2190332682

Gene: FAH

Linked Data

• dbSNP Id: rs2041130280
• gnomAD v4: 15-80159663-A-AGGGCTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159664_80159671dup , CM000677.2:g.80159664_80159671dup	GRCh38
NC_000015.9:g.80452006_80452013dup , CM000677.1:g.80452006_80452013dup	GRCh37
NC_000015.8:g.78239061_78239068dup	NCBI36
NG_012833.1:g.11666_11673dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.193-92_193-85dup	ENSP00000507680.1:n.193-92_193-85dup
ENST00000682012.1:n.268-92_268-85dup
ENST00000683593.1:n.70-92_70-85dup
ENST00000684363.1:c.193-92_193-85dup	ENSP00000507314.1:n.193-92_193-85dup
ENST00000684569.1:n.238-92_238-85dup
ENST00000561421.6:c.193-92_193-85dup MANE Select	ENSP00000453347.2:n.193-92_193-85dup
ENST00000646551.1:n.1680-92_1680-85dup
ENST00000261755.9:c.193-92_193-85dup	ENSP00000261755.5:n.193-92_193-85dup
ENST00000407106.5:c.193-92_193-85dup	ENSP00000385080.1:n.193-92_193-85dup
ENST00000537726.5:n.275-92_275-85dup
ENST00000539156.5:c.-18-92_-18-85dup	ENSP00000454271.1:n.-18-92_-18-85dup
ENST00000558022.5:c.193-92_193-85dup	ENSP00000453152.1:n.193-92_193-85dup
ENST00000558767.5:n.454-92_454-85dup
ENST00000561369.1:n.273-92_273-85dup
ENST00000561421.5:c.193-92_193-85dup	ENSP00000453347.1:n.193-92_193-85dup
NM_000137.2:c.193-92_193-85dup	NP_000128.1:n.193-92_193-85dup
XM_024449872.1:c.193-92_193-85dup	XP_024305640.1:n.193-92_193-85dup
NM_000137.4:c.193-92_193-85dup MANE Select	NP_000128.1:n.193-92_193-85dup
NM_001374377.1:c.193-92_193-85dup	NP_001361306.1:n.193-92_193-85dup
NM_001374380.1:c.193-92_193-85dup	NP_001361309.1:n.193-92_193-85dup