Canonical Allele Identifier: CA2190317963

Gene: FAH

Linked Data

• ClinVar Variation Id: 2188628
• ClinVar RCV Id: RCV002620372
• dbSNP Id: rs2041368474

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186120T>C , CM000677.2:g.80186120T>C	GRCh38
NC_000015.9:g.80478462T>C , CM000677.1:g.80478462T>C	GRCh37
NC_000015.8:g.78265517T>C	NCBI36
NG_012833.1:g.38122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1270-10T>C
ENST00000561421.6:c.1181-10T>C MANE Select	ENSP00000453347.2:n.1181-10T>C
ENST00000646551.1:n.2795-10T>C
ENST00000261755.9:c.1181-10T>C	ENSP00000261755.5:n.1181-10T>C
ENST00000407106.5:c.1181-10T>C	ENSP00000385080.1:n.1181-10T>C
ENST00000539156.5:c.971-10T>C	ENSP00000454271.1:n.971-10T>C
ENST00000559217.1:n.398-10T>C
ENST00000561421.5:c.1181-10T>C	ENSP00000453347.1:n.1181-10T>C
NM_000137.2:c.1181-10T>C	NP_000128.1:n.1181-10T>C
XM_024449872.1:c.1181-10T>C	XP_024305640.1:n.1181-10T>C
NM_000137.4:c.1181-10T>C MANE Select	NP_000128.1:n.1181-10T>C
NM_001374377.1:c.1181-10T>C	NP_001361306.1:n.1181-10T>C
NM_001374380.1:c.1181-10T>C	NP_001361309.1:n.1181-10T>C