Canonical Allele Identifier: CA7691199

Gene: FAH

Linked Data

• ClinVar Variation Id: 1659994
• ClinVar RCV Id: RCV002181209
• dbSNP Id: rs143712599
• ExAC: 15:80460436 C / T
• gnomAD v2: 15-80460436-C-T
• gnomAD v3: 15-80168094-C-T
• gnomAD v4: 15-80168094-C-T
• MyVariant Identifiers: chr15:g.80460436C>T (hg19) ; chr15:g.80168094C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168094C>T , CM000677.2:g.80168094C>T	GRCh38
NC_000015.9:g.80460436C>T , CM000677.1:g.80460436C>T	GRCh37
NC_000015.8:g.78247491C>T	NCBI36
NG_012833.1:g.20096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.573C>T
ENST00000684569.1:n.543C>T
ENST00000561421.6:c.498C>T MANE Select	ENSP00000453347.2:p.Val166=
ENST00000646551.1:n.2125C>T
ENST00000261755.9:c.498C>T	ENSP00000261755.5:p.Val166=
ENST00000407106.5:c.498C>T	ENSP00000385080.1:p.Val166=
ENST00000539156.5:c.288C>T	ENSP00000454271.1:p.Val96=
ENST00000558514.1:n.44C>T
ENST00000558627.1:n.426C>T
ENST00000561421.5:c.498C>T	ENSP00000453347.1:p.Val166=
NM_000137.2:c.498C>T	NP_000128.1:p.Val166=
XM_024449872.1:c.498C>T	XP_024305640.1:p.Val166=
NM_000137.4:c.498C>T MANE Select	NP_000128.1:p.Val166=
NM_001374377.1:c.498C>T	NP_001361306.1:p.Val166=
NM_001374380.1:c.498C>T	NP_001361309.1:p.Val166=