Canonical Allele Identifier: CA619269422

Gene: FAH

Linked Data

• ClinVar Variation Id: 1081925
• ClinVar RCV Id: RCV001398083
• dbSNP Id: rs1325357461
• gnomAD v2: 15-80464482-C-T
• gnomAD v4: 15-80172140-C-T
• MyVariant Identifiers: chr15:g.80464482C>T (hg19) ; chr15:g.80172140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80172140C>T , CM000677.2:g.80172140C>T	GRCh38
NC_000015.9:g.80464482C>T , CM000677.1:g.80464482C>T	GRCh37
NC_000015.8:g.78251537C>T	NCBI36
NG_012833.1:g.24142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.796-874C>T
ENST00000561421.6:c.607-9C>T MANE Select	ENSP00000453347.2:n.607-9C>T
ENST00000646551.1:n.2234-22C>T
ENST00000261755.9:c.607-9C>T	ENSP00000261755.5:n.607-9C>T
ENST00000407106.5:c.607-9C>T	ENSP00000385080.1:n.607-9C>T
ENST00000539156.5:c.397-9C>T	ENSP00000454271.1:n.397-9C>T
ENST00000558627.1:n.535-9C>T
ENST00000561421.5:c.607-9C>T	ENSP00000453347.1:n.607-9C>T
NM_000137.2:c.607-9C>T	NP_000128.1:n.607-9C>T
XM_024449872.1:c.607-9C>T	XP_024305640.1:n.607-9C>T
NM_000137.4:c.607-9C>T MANE Select	NP_000128.1:n.607-9C>T
NM_001374377.1:c.607-9C>T	NP_001361306.1:n.607-9C>T
NM_001374380.1:c.607-9C>T	NP_001361309.1:n.607-9C>T