Canonical Allele Identifier: CA2672012514

Gene: FAT4

Linked Data

• gnomAD v4: 4-125481468-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125481468C>A , CM000666.2:g.125481468C>A	GRCh38
NC_000004.11:g.126402623C>A , CM000666.1:g.126402623C>A	GRCh37
NC_000004.10:g.126622073C>A	NCBI36
NG_033865.1:g.170057C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.12605-53C>A MANE Select	ENSP00000377862.4:n.12605-53C>A
ENST00000674496.2:c.7376-53C>A	ENSP00000501473.2:n.7376-53C>A
ENST00000335110.5:c.7322-53C>A	ENSP00000335169.5:n.7322-53C>A
ENST00000394329.7:c.12599-53C>A	ENSP00000377862.3:n.12599-53C>A
NM_001291285.1:c.12605-53C>A	NP_001278214.1:n.12605-53C>A
NM_001291303.1:c.12605-53C>A	NP_001278232.1:n.12605-53C>A
NM_024582.4:c.12599-53C>A	NP_078858.4:n.12599-53C>A
XM_011532236.1:c.12605-53C>A	XP_011530538.1:n.12605-53C>A
XM_011532237.1:c.7376-53C>A	XP_011530539.1:n.7376-53C>A
XM_011532236.2:c.12605-53C>A	XP_011530538.1:n.12605-53C>A
XM_011532237.2:c.7376-53C>A	XP_011530539.1:n.7376-53C>A
NM_001291285.2:c.12605-53C>A	NP_001278214.1:n.12605-53C>A
NM_001291303.3:c.12605-53C>A MANE Select	NP_001278232.1:n.12605-53C>A
NM_024582.5:c.12599-53C>A	NP_078858.4:n.12599-53C>A
NM_001291285.3:c.12605-53C>A	NP_001278214.1:n.12605-53C>A
NM_024582.6:c.12599-53C>A	NP_078858.4:n.12599-53C>A