Canonical Allele Identifier: CA7691209
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 646736
ClinVar RCV Id: RCV000801084
dbSNP Id: rs768180953
ExAC: 15:80460485 GATGACTGTGAGTGACCGCAGCGTCCA / G
gnomAD v2: 15-80460485-GATGACTGTGAGTGACCGCAGCGTCCA-G
gnomAD v3: 15-80168143-GATGACTGTGAGTGACCGCAGCGTCCA-G
gnomAD v4: 15-80168143-GATGACTGTGAGTGACCGCAGCGTCCA-G
MyVariant Identifiers: chr15:g.80460486_80460511del (hg19) chr15:g.80168144_80168169del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80168144_80168169del , CM000677.2:g.80168144_80168169del GRCh38
NC_000015.9:g.80460486_80460511del , CM000677.1:g.80460486_80460511del GRCh37
NC_000015.8:g.78247541_78247566del NCBI36
NG_012833.1:g.20146_20171del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.623_648del
ENST00000684569.1:n.593_598+20del
ENST00000561421.6:c.548_553+20del
ENST00000646551.1:n.2175_2180+20del
ENST00000261755.9:c.548_553+20del
ENST00000407106.5:c.548_553+20del
ENST00000539156.5:c.338_343+20del
ENST00000558514.1:n.94_99+20del
ENST00000558627.1:n.476_481+20del
ENST00000561421.5:c.548_553+20del
NM_000137.2:c.548_553+20del
XM_024449872.1:c.548_553+20del
NM_000137.4:c.548_553+20del
NM_001374377.1:c.548_553+20del
NM_001374380.1:c.548_553+20del
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