Canonical Allele Identifier: CA7691149

Gene: FAH

Linked Data

• ClinVar Variation Id: 517954
• ClinVar RCV Id: RCV000607119 ; RCV001272516
• dbSNP Id: rs757871102
• ExAC: 15:80454634 C / T
• gnomAD v2: 15-80454634-C-T
• gnomAD v4: 15-80162292-C-T
• MyVariant Identifiers: chr15:g.80454634C>T (hg19) ; chr15:g.80162292C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162292C>T , CM000677.2:g.80162292C>T	GRCh38
NC_000015.9:g.80454634C>T , CM000677.1:g.80454634C>T	GRCh37
NC_000015.8:g.78241689C>T	NCBI36
NG_012833.1:g.14294C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558767.6:c.411C>T	ENSP00000507680.1:p.Val137=
ENST00000682012.1:n.486C>T
ENST00000683593.1:n.2074C>T
ENST00000684363.1:c.365-100C>T	ENSP00000507314.1:n.365-100C>T
ENST00000684569.1:n.456C>T
ENST00000561421.6:c.411C>T MANE Select	ENSP00000453347.2:p.Val137=
ENST00000646551.1:n.1898C>T
ENST00000261755.9:c.411C>T	ENSP00000261755.5:p.Val137=
ENST00000407106.5:c.411C>T	ENSP00000385080.1:p.Val137=
ENST00000537726.5:n.557C>T
ENST00000539156.5:c.201C>T	ENSP00000454271.1:p.Val67=
ENST00000558022.5:c.411C>T	ENSP00000453152.1:p.Val137=
ENST00000558627.1:n.339C>T
ENST00000558767.5:n.672C>T
ENST00000561369.1:n.555C>T
ENST00000561421.5:c.411C>T	ENSP00000453347.1:p.Val137=
NM_000137.2:c.411C>T	NP_000128.1:p.Val137=
XM_024449872.1:c.411C>T	XP_024305640.1:p.Val137=
NM_000137.4:c.411C>T MANE Select	NP_000128.1:p.Val137=
NM_001374377.1:c.411C>T	NP_001361306.1:p.Val137=
NM_001374380.1:c.411C>T	NP_001361309.1:p.Val137=