Canonical Allele Identifier: CA619268202

Gene: FAH

Linked Data

• dbSNP Id: rs1169603836
• gnomAD v2: 15-80460303-ACT-A
• gnomAD v3: 15-80167961-ACT-A
• gnomAD v4: 15-80167961-ACT-A
• MyVariant Identifiers: chr15:g.80460304_80460305del (hg19) ; chr15:g.80167962_80167963del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80167964_80167965del , CM000677.2:g.80167964_80167965del	GRCh38
NC_000015.9:g.80460306_80460307del , CM000677.1:g.80460306_80460307del	GRCh37
NC_000015.8:g.78247361_78247362del	NCBI36
NG_012833.1:g.19966_19967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.531-88_531-87del
ENST00000684569.1:n.501-88_501-87del
ENST00000561421.6:c.456-88_456-87del MANE Select	ENSP00000453347.2:n.456-88_456-87del
ENST00000646551.1:n.2083-88_2083-87del
ENST00000261755.9:c.456-88_456-87del	ENSP00000261755.5:n.456-88_456-87del
ENST00000407106.5:c.456-88_456-87del	ENSP00000385080.1:n.456-88_456-87del
ENST00000539156.5:c.246-88_246-87del	ENSP00000454271.1:n.246-88_246-87del
ENST00000558022.5:c.456-88_456-87del	ENSP00000453152.1:n.456-88_456-87del
ENST00000558627.1:n.384-88_384-87del
ENST00000561421.5:c.456-88_456-87del	ENSP00000453347.1:n.456-88_456-87del
NM_000137.2:c.456-88_456-87del	NP_000128.1:n.456-88_456-87del
XM_024449872.1:c.456-88_456-87del	XP_024305640.1:n.456-88_456-87del
NM_000137.4:c.456-88_456-87del MANE Select	NP_000128.1:n.456-88_456-87del
NM_001374377.1:c.456-88_456-87del	NP_001361306.1:n.456-88_456-87del
NM_001374380.1:c.456-88_456-87del	NP_001361309.1:n.456-88_456-87del