Canonical Allele Identifier: CA7691433

Gene: FAH

Linked Data

• ClinVar Variation Id: 744833
• ClinVar RCV Id: RCV000921322 ; RCV003902999
• dbSNP Id: rs182877963
• ExAC: 15:80472501 C / T
• gnomAD v2: 15-80472501-C-T
• gnomAD v3: 15-80180159-C-T
• gnomAD v4: 15-80180159-C-T
• MyVariant Identifiers: chr15:g.80472501C>T (hg19) ; chr15:g.80180159C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180159C>T , CM000677.2:g.80180159C>T	GRCh38
NC_000015.9:g.80472501C>T , CM000677.1:g.80472501C>T	GRCh37
NC_000015.8:g.78259556C>T	NCBI36
NG_012833.1:g.32161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1085C>T
ENST00000561421.6:c.996C>T MANE Select	ENSP00000453347.2:p.His332=
ENST00000646551.1:n.2610C>T
ENST00000261755.9:c.996C>T	ENSP00000261755.5:p.His332=
ENST00000407106.5:c.996C>T	ENSP00000385080.1:p.His332=
ENST00000539156.5:c.786C>T	ENSP00000454271.1:p.His262=
ENST00000559217.1:n.213C>T
ENST00000561353.2:c.94C>T
ENST00000561421.5:c.996C>T	ENSP00000453347.1:p.His332=
NM_000137.2:c.996C>T	NP_000128.1:p.His332=
XM_024449872.1:c.996C>T	XP_024305640.1:p.His332=
NM_000137.4:c.996C>T MANE Select	NP_000128.1:p.His332=
NM_001374377.1:c.996C>T	NP_001361306.1:p.His332=
NM_001374380.1:c.996C>T	NP_001361309.1:p.His332=