Canonical Allele Identifier: CA14087091

Gene: FAH

Linked Data

• ClinVar Variation Id: 1286725
• ClinVar RCV Id: RCV001708350
• dbSNP Id: rs62006336
• gnomAD v2: 15-80478237-C-T
• gnomAD v3: 15-80185895-C-T
• gnomAD v4: 15-80185895-C-T
• MyVariant Identifiers: chr15:g.80478237C>T (hg19) ; chr15:g.80185895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80185895C>T , CM000677.2:g.80185895C>T	GRCh38
NC_000015.9:g.80478237C>T , CM000677.1:g.80478237C>T	GRCh37
NC_000015.8:g.78265292C>T	NCBI36
NG_012833.1:g.37897C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1270-235C>T
ENST00000561421.6:c.1181-235C>T MANE Select	ENSP00000453347.2:n.1181-235C>T
ENST00000646551.1:n.2795-235C>T
ENST00000261755.9:c.1181-235C>T	ENSP00000261755.5:n.1181-235C>T
ENST00000407106.5:c.1181-235C>T	ENSP00000385080.1:n.1181-235C>T
ENST00000539156.5:c.971-235C>T	ENSP00000454271.1:n.971-235C>T
ENST00000559217.1:n.398-235C>T
ENST00000561421.5:c.1181-235C>T	ENSP00000453347.1:n.1181-235C>T
NM_000137.2:c.1181-235C>T	NP_000128.1:n.1181-235C>T
XM_024449872.1:c.1181-235C>T	XP_024305640.1:n.1181-235C>T
NM_000137.4:c.1181-235C>T MANE Select	NP_000128.1:n.1181-235C>T
NM_001374377.1:c.1181-235C>T	NP_001361306.1:n.1181-235C>T
NM_001374380.1:c.1181-235C>T	NP_001361309.1:n.1181-235C>T