Canonical Allele Identifier: CA393621922

Gene: FAH

Linked Data

• ClinVar Variation Id: 2675346
• ClinVar RCV Id: RCV003468076
• dbSNP Id: rs121965076
• gnomAD v3: 15-80181069-G-C
• gnomAD v4: 15-80181069-G-C
• MyVariant Identifiers: chr15:g.80473411G>C (hg19) ; chr15:g.80181069G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80181069G>C , CM000677.2:g.80181069G>C	GRCh38
NC_000015.9:g.80473411G>C , CM000677.1:g.80473411G>C	GRCh37
NC_000015.8:g.78260466G>C	NCBI36
NG_012833.1:g.33071G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.1179G>C
ENST00000561421.6:c.1090G>C MANE Select	ENSP00000453347.2:p.Glu364Gln
ENST00000646551.1:n.2704G>C
ENST00000261755.9:c.1090G>C	ENSP00000261755.5:p.Glu364Gln
ENST00000407106.5:c.1090G>C	ENSP00000385080.1:p.Glu364Gln
ENST00000539156.5:c.880G>C	ENSP00000454271.1:p.Glu294Gln
ENST00000559217.1:n.307G>C
ENST00000561353.2:c.293G>C
ENST00000561421.5:c.1090G>C	ENSP00000453347.1:p.Glu364Gln
NM_000137.2:c.1090G>C	NP_000128.1:p.Glu364Gln
XM_024449872.1:c.1090G>C	XP_024305640.1:p.Glu364Gln
NM_000137.4:c.1090G>C MANE Select	NP_000128.1:p.Glu364Gln
NM_001374377.1:c.1090G>C	NP_001361306.1:p.Glu364Gln
NM_001374380.1:c.1090G>C	NP_001361309.1:p.Glu364Gln