Canonical Allele Identifier: CA7691163

Gene: FAH

Linked Data

• ClinVar Variation Id: 507801
• ClinVar RCV Id: RCV000603567 ; RCV000979961 ; RCV003905588
• dbSNP Id: rs531129429
• ExAC: 15:80454687 T / C
• gnomAD v2: 15-80454687-T-C
• gnomAD v3: 15-80162345-T-C
• gnomAD v4: 15-80162345-T-C
• MyVariant Identifiers: chr15:g.80454687T>C (hg19) ; chr15:g.80162345T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162345T>C , CM000677.2:g.80162345T>C	GRCh38
NC_000015.9:g.80454687T>C , CM000677.1:g.80454687T>C	GRCh37
NC_000015.8:g.78241742T>C	NCBI36
NG_012833.1:g.14347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.464T>C	ENSP00000507680.1:p.Leu155Pro
ENST00000682012.1:n.530+9T>C
ENST00000683593.1:n.2127T>C
ENST00000684363.1:c.365-47T>C	ENSP00000507314.1:n.365-47T>C
ENST00000684569.1:n.500+9T>C
ENST00000561421.6:c.455+9T>C MANE Select	ENSP00000453347.2:n.455+9T>C
ENST00000646551.1:n.1942+9T>C
ENST00000261755.9:c.455+9T>C	ENSP00000261755.5:n.455+9T>C
ENST00000407106.5:c.455+9T>C	ENSP00000385080.1:n.455+9T>C
ENST00000537726.5:n.610T>C
ENST00000539156.5:c.245+9T>C	ENSP00000454271.1:n.245+9T>C
ENST00000558022.5:c.455+9T>C	ENSP00000453152.1:n.455+9T>C
ENST00000558627.1:n.383+9T>C
ENST00000558767.5:n.725T>C
ENST00000561369.1:n.608T>C
ENST00000561421.5:c.455+9T>C	ENSP00000453347.1:n.455+9T>C
NM_000137.2:c.455+9T>C	NP_000128.1:n.455+9T>C
XM_024449872.1:c.455+9T>C	XP_024305640.1:n.455+9T>C
NM_000137.4:c.455+9T>C MANE Select	NP_000128.1:n.455+9T>C
NM_001374377.1:c.455+9T>C	NP_001361306.1:n.455+9T>C
NM_001374380.1:c.455+9T>C	NP_001361309.1:n.455+9T>C