Canonical Allele Identifier: CA971898397

Gene: FAH

Linked Data

• ClinVar Variation Id: 2422039
• ClinVar RCV Id: RCV003118981
• dbSNP Id: rs1244015529
• gnomAD v3: 15-80162237-C-T
• gnomAD v4: 15-80162237-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162237C>T , CM000677.2:g.80162237C>T	GRCh38
NC_000015.9:g.80454579C>T , CM000677.1:g.80454579C>T	GRCh37
NC_000015.8:g.78241634C>T	NCBI36
NG_012833.1:g.14239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.365-9C>T	ENSP00000507680.1:n.365-9C>T
ENST00000682012.1:n.440-9C>T
ENST00000683593.1:n.2019C>T
ENST00000684363.1:c.365-155C>T	ENSP00000507314.1:n.365-155C>T
ENST00000684569.1:n.410-9C>T
ENST00000561421.6:c.365-9C>T MANE Select	ENSP00000453347.2:n.365-9C>T
ENST00000646551.1:n.1852-9C>T
ENST00000261755.9:c.365-9C>T	ENSP00000261755.5:n.365-9C>T
ENST00000407106.5:c.365-9C>T	ENSP00000385080.1:n.365-9C>T
ENST00000537726.5:n.511-9C>T
ENST00000539156.5:c.155-9C>T	ENSP00000454271.1:n.155-9C>T
ENST00000558022.5:c.365-9C>T	ENSP00000453152.1:n.365-9C>T
ENST00000558627.1:n.293-9C>T
ENST00000558767.5:n.626-9C>T
ENST00000561369.1:n.509-9C>T
ENST00000561421.5:c.365-9C>T	ENSP00000453347.1:n.365-9C>T
NM_000137.2:c.365-9C>T	NP_000128.1:n.365-9C>T
XM_024449872.1:c.365-9C>T	XP_024305640.1:n.365-9C>T
NM_000137.4:c.365-9C>T MANE Select	NP_000128.1:n.365-9C>T
NM_001374377.1:c.365-9C>T	NP_001361306.1:n.365-9C>T
NM_001374380.1:c.365-9C>T	NP_001361309.1:n.365-9C>T