Canonical Allele Identifier: CA7691439

Gene: FAH

Linked Data

• ClinVar Variation Id: 2867939
• ClinVar RCV Id: RCV003633139
• dbSNP Id: rs756624728
• ExAC: 15:80472523 C / T
• gnomAD v2: 15-80472523-C-T
• gnomAD v4: 15-80180181-C-T
• MyVariant Identifiers: chr15:g.80472523C>T (hg19) ; chr15:g.80180181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180181C>T , CM000677.2:g.80180181C>T	GRCh38
NC_000015.9:g.80472523C>T , CM000677.1:g.80472523C>T	GRCh37
NC_000015.8:g.78259578C>T	NCBI36
NG_012833.1:g.32183C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1107C>T
ENST00000561421.6:c.1018C>T MANE Select	ENSP00000453347.2:p.Leu340=
ENST00000646551.1:n.2632C>T
ENST00000261755.9:c.1018C>T	ENSP00000261755.5:p.Leu340=
ENST00000407106.5:c.1018C>T	ENSP00000385080.1:p.Leu340=
ENST00000539156.5:c.808C>T	ENSP00000454271.1:p.Leu270=
ENST00000559217.1:n.235C>T
ENST00000561353.2:c.116C>T
ENST00000561421.5:c.1018C>T	ENSP00000453347.1:p.Leu340=
NM_000137.2:c.1018C>T	NP_000128.1:p.Leu340=
XM_024449872.1:c.1018C>T	XP_024305640.1:p.Leu340=
NM_000137.4:c.1018C>T MANE Select	NP_000128.1:p.Leu340=
NM_001374377.1:c.1018C>T	NP_001361306.1:p.Leu340=
NM_001374380.1:c.1018C>T	NP_001361309.1:p.Leu340=