Canonical Allele Identifier: CA7691259

Gene: FAH

Linked Data

• ClinVar Variation Id: 2675364
• ClinVar RCV Id: RCV003460112
• dbSNP Id: rs773450608
• ExAC: 15:80460659 G / T
• gnomAD v2: 15-80460659-G-T
• gnomAD v4: 15-80168317-G-T
• MyVariant Identifiers: chr15:g.80460659G>T (hg19) ; chr15:g.80168317G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168317G>T , CM000677.2:g.80168317G>T	GRCh38
NC_000015.9:g.80460659G>T , CM000677.1:g.80460659G>T	GRCh37
NC_000015.8:g.78247714G>T	NCBI36
NG_012833.1:g.20319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+1G>T
ENST00000684569.1:n.651+1G>T
ENST00000561421.6:c.606+1G>T MANE Select	ENSP00000453347.2:n.606+1G>T
ENST00000646551.1:n.2233+1G>T
ENST00000261755.9:c.606+1G>T	ENSP00000261755.5:n.606+1G>T
ENST00000407106.5:c.606+1G>T	ENSP00000385080.1:n.606+1G>T
ENST00000539156.5:c.396+1G>T	ENSP00000454271.1:n.396+1G>T
ENST00000558514.1:n.153G>T
ENST00000558627.1:n.534+1G>T
ENST00000561421.5:c.606+1G>T	ENSP00000453347.1:n.606+1G>T
NM_000137.2:c.606+1G>T	NP_000128.1:n.606+1G>T
XM_024449872.1:c.606+1G>T	XP_024305640.1:n.606+1G>T
NM_000137.4:c.606+1G>T MANE Select	NP_000128.1:n.606+1G>T
NM_001374377.1:c.606+1G>T	NP_001361306.1:n.606+1G>T
NM_001374380.1:c.606+1G>T	NP_001361309.1:n.606+1G>T