Canonical Allele Identifier: CA3072226

Gene: FAT4

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125319328G>A , CM000666.2:g.125319328G>A	GRCh38
NC_000004.11:g.126240483G>A , CM000666.1:g.126240483G>A	GRCh37
NC_000004.10:g.126459933G>A	NCBI36
NG_033865.1:g.7917G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291303.3:c.2917G>A MANE Select	NP_001278232.1:p.Val973Ile
ENST00000394329.9:c.2917G>A MANE Select	ENSP00000377862.4:p.Val973Ile
NM_001291285.1:c.2917G>A	NP_001278214.1:p.Val973Ile
NM_001291285.2:c.2917G>A	NP_001278214.1:p.Val973Ile
NM_001291285.3:c.2917G>A	NP_001278214.1:p.Val973Ile
NM_001291303.1:c.2917G>A	NP_001278232.1:p.Val973Ile
NM_024582.4:c.2917G>A	NP_078858.4:p.Val973Ile
NM_024582.5:c.2917G>A	NP_078858.4:p.Val973Ile
NM_024582.6:c.2917G>A	NP_078858.4:p.Val973Ile
ENST00000394329.7:c.2917G>A	ENSP00000377862.3:p.Val973Ile
ENST00000674496.2:c.-55+3351G>A	ENSP00000501473.2:n.-55+3351G>A
ENST00000678072.1:n.523G>A
XM_011532236.1:c.2917G>A	XP_011530538.1:p.Val973Ile
XM_011532236.2:c.2917G>A	XP_011530538.1:p.Val973Ile
XM_011532237.1:c.-55+3351G>A	XP_011530539.1:n.-55+3351G>A
XM_011532237.2:c.-55+3351G>A	XP_011530539.1:n.-55+3351G>A