Canonical Allele Identifier: CA3074377

Gene: FAT4

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125490284G>A , CM000666.2:g.125490284G>A	GRCh38
NC_000004.11:g.126411439G>A , CM000666.1:g.126411439G>A	GRCh37
NC_000004.10:g.126630889G>A	NCBI36
NG_033865.1:g.178873G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291303.3:c.13468G>A MANE Select	NP_001278232.1:p.Val4490Ile
ENST00000394329.9:c.13468G>A MANE Select	ENSP00000377862.4:p.Val4490Ile
NM_001291285.1:c.13465G>A	NP_001278214.1:p.Val4489Ile
NM_001291285.2:c.13465G>A	NP_001278214.1:p.Val4489Ile
NM_001291285.3:c.13465G>A	NP_001278214.1:p.Val4489Ile
NM_001291303.1:c.13468G>A	NP_001278232.1:p.Val4490Ile
NM_024582.4:c.13462G>A	NP_078858.4:p.Val4488Ile
NM_024582.5:c.13462G>A	NP_078858.4:p.Val4488Ile
NM_024582.6:c.13462G>A	NP_078858.4:p.Val4488Ile
ENST00000335110.5:c.8185G>A	ENSP00000335169.5:p.Val2729Ile
ENST00000394329.7:c.13462G>A	ENSP00000377862.3:p.Val4488Ile
ENST00000674496.2:c.8239G>A	ENSP00000501473.2:p.Val2747Ile
XM_011532236.1:c.13468G>A	XP_011530538.1:p.Val4490Ile
XM_011532236.2:c.13468G>A	XP_011530538.1:p.Val4490Ile
XM_011532237.1:c.8239G>A	XP_011530539.1:p.Val2747Ile
XM_011532237.2:c.8239G>A	XP_011530539.1:p.Val2747Ile