Canonical Allele Identifier: CA7691075

Gene: FAH

Linked Data

• ClinVar Variation Id: 500770
• ClinVar RCV Id: RCV000593696 ; RCV001410807
• dbSNP Id: rs567587933
• ExAC: 15:80452205 C / T
• gnomAD v2: 15-80452205-C-T
• gnomAD v3: 15-80159863-C-T
• gnomAD v4: 15-80159863-C-T
• MyVariant Identifiers: chr15:g.80452205C>T (hg19) ; chr15:g.80159863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159863C>T , CM000677.2:g.80159863C>T	GRCh38
NC_000015.9:g.80452205C>T , CM000677.1:g.80452205C>T	GRCh37
NC_000015.8:g.78239260C>T	NCBI36
NG_012833.1:g.11865C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.300C>T	ENSP00000507680.1:p.Thr100=
ENST00000682012.1:n.375C>T
ENST00000683593.1:n.177C>T
ENST00000684363.1:c.300C>T	ENSP00000507314.1:p.Thr100=
ENST00000684569.1:n.345C>T
ENST00000561421.6:c.300C>T MANE Select	ENSP00000453347.2:p.Thr100=
ENST00000646551.1:n.1787C>T
ENST00000261755.9:c.300C>T	ENSP00000261755.5:p.Thr100=
ENST00000407106.5:c.300C>T	ENSP00000385080.1:p.Thr100=
ENST00000537726.5:n.382C>T
ENST00000539156.5:c.90C>T	ENSP00000454271.1:p.Thr30=
ENST00000558022.5:c.300C>T	ENSP00000453152.1:p.Thr100=
ENST00000558767.5:n.561C>T
ENST00000561369.1:n.380C>T
ENST00000561421.5:c.300C>T	ENSP00000453347.1:p.Thr100=
NM_000137.2:c.300C>T	NP_000128.1:p.Thr100=
XM_024449872.1:c.300C>T	XP_024305640.1:p.Thr100=
NM_000137.4:c.300C>T MANE Select	NP_000128.1:p.Thr100=
NM_001374377.1:c.300C>T	NP_001361306.1:p.Thr100=
NM_001374380.1:c.300C>T	NP_001361309.1:p.Thr100=