Canonical Allele Identifier: CA7691146

Gene: FAH

Linked Data

• ClinVar Variation Id: 662972
• ClinVar RCV Id: RCV000820739
• dbSNP Id: rs768365621
• ExAC: 15:80454630 A / G
• gnomAD v2: 15-80454630-A-G
• gnomAD v4: 15-80162288-A-G
• MyVariant Identifiers: chr15:g.80454630A>G (hg19) ; chr15:g.80162288A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162288A>G , CM000677.2:g.80162288A>G	GRCh38
NC_000015.9:g.80454630A>G , CM000677.1:g.80454630A>G	GRCh37
NC_000015.8:g.78241685A>G	NCBI36
NG_012833.1:g.14290A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.407A>G	ENSP00000507680.1:p.Asn136Ser
ENST00000682012.1:n.482A>G
ENST00000683593.1:n.2070A>G
ENST00000684363.1:c.365-104A>G	ENSP00000507314.1:n.365-104A>G
ENST00000684569.1:n.452A>G
ENST00000561421.6:c.407A>G MANE Select	ENSP00000453347.2:p.Asn136Ser
ENST00000646551.1:n.1894A>G
ENST00000261755.9:c.407A>G	ENSP00000261755.5:p.Asn136Ser
ENST00000407106.5:c.407A>G	ENSP00000385080.1:p.Asn136Ser
ENST00000537726.5:n.553A>G
ENST00000539156.5:c.197A>G	ENSP00000454271.1:p.Asn66Ser
ENST00000558022.5:c.407A>G	ENSP00000453152.1:p.Asn136Ser
ENST00000558627.1:n.335A>G
ENST00000558767.5:n.668A>G
ENST00000561369.1:n.551A>G
ENST00000561421.5:c.407A>G	ENSP00000453347.1:p.Asn136Ser
NM_000137.2:c.407A>G	NP_000128.1:p.Asn136Ser
XM_024449872.1:c.407A>G	XP_024305640.1:p.Asn136Ser
NM_000137.4:c.407A>G MANE Select	NP_000128.1:p.Asn136Ser
NM_001374377.1:c.407A>G	NP_001361306.1:p.Asn136Ser
NM_001374380.1:c.407A>G	NP_001361309.1:p.Asn136Ser