Canonical Allele Identifier: CA656731915

Gene: FAH

Linked Data

• dbSNP Id: rs2041213959
• gnomAD v3: 15-80168369-G-T
• gnomAD v4: 15-80168369-G-T
• COSMIC: COSN5756897 ; COSN5756898

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168369G>T , CM000677.2:g.80168369G>T	GRCh38
NC_000015.9:g.80460711G>T , CM000677.1:g.80460711G>T	GRCh37
NC_000015.8:g.78247766G>T	NCBI36
NG_012833.1:g.20371G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+53G>T
ENST00000684569.1:n.651+53G>T
ENST00000561421.6:c.606+53G>T MANE Select	ENSP00000453347.2:n.606+53G>T
ENST00000646551.1:n.2233+53G>T
ENST00000261755.9:c.606+53G>T	ENSP00000261755.5:n.606+53G>T
ENST00000407106.5:c.606+53G>T	ENSP00000385080.1:n.606+53G>T
ENST00000539156.5:c.396+53G>T	ENSP00000454271.1:n.396+53G>T
ENST00000558514.1:n.205G>T
ENST00000558627.1:n.534+53G>T
ENST00000561421.5:c.606+53G>T	ENSP00000453347.1:n.606+53G>T
NM_000137.2:c.606+53G>T	NP_000128.1:n.606+53G>T
XM_024449872.1:c.606+53G>T	XP_024305640.1:n.606+53G>T
NM_000137.4:c.606+53G>T MANE Select	NP_000128.1:n.606+53G>T
NM_001374377.1:c.606+53G>T	NP_001361306.1:n.606+53G>T
NM_001374380.1:c.606+53G>T	NP_001361309.1:n.606+53G>T