Canonical Allele Identifier: CA716072041

Gene: FAH

Linked Data

• ClinVar Variation Id: 937956
• ClinVar RCV Id: RCV001207091
• dbSNP Id: rs1057517084
• gnomAD v3: 15-80172150-C-CT
• gnomAD v4: 15-80172150-C-CT
• MyVariant Identifiers: chr15:g.80464492_80464493insT (hg19) ; chr15:g.80172150_80172151insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80172157dup , CM000677.2:g.80172157dup	GRCh38
NC_000015.9:g.80464499dup , CM000677.1:g.80464499dup	GRCh37
NC_000015.8:g.78251554dup	NCBI36
NG_012833.1:g.24159dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.796-857dup
ENST00000561421.6:c.615dup MANE Select	ENSP00000453347.2:p.Val206CysfsTer18
ENST00000646551.1:n.2234-5dup
ENST00000261755.9:c.615dup	ENSP00000261755.5:p.Val206CysfsTer18
ENST00000407106.5:c.615dup	ENSP00000385080.1:p.Val206CysfsTer18
ENST00000539156.5:c.405dup	ENSP00000454271.1:p.Val136CysfsTer18
ENST00000558627.1:n.543dup
ENST00000561421.5:c.615dup	ENSP00000453347.1:p.Val206CysfsTer18
NM_000137.2:c.615dup	NP_000128.1:p.Val206CysfsTer18
XM_024449872.1:c.615dup	XP_024305640.1:p.Val206CysfsTer18
NM_000137.4:c.615dup MANE Select	NP_000128.1:p.Val206CysfsTer18
NM_001374377.1:c.615dup	NP_001361306.1:p.Val206CysfsTer18
NM_001374380.1:c.615dup	NP_001361309.1:p.Val206CysfsTer18