Canonical Allele Identifier: CA372080418

Gene: ZFAT

Linked Data

• MyVariant Identifiers: chr8:g.135614755G>T (hg19) ; chr8:g.134602512G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.134602512G>T , CM000670.2:g.134602512G>T	GRCh38
NC_000008.10:g.135614755G>T , CM000670.1:g.135614755G>T	GRCh37
NC_000008.9:g.135683937G>T	NCBI36
NG_016356.1:g.115538C>A
NG_016356.2:g.115538C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377838.8:c.1207C>A MANE Select	ENSP00000367069.3:p.Leu403Ile
ENST00000377838.7:c.1207C>A	ENSP00000367069.3:p.Leu403Ile
ENST00000429442.6:c.1171C>A	ENSP00000394501.2:p.Leu391Ile
ENST00000520214.5:c.1171C>A	ENSP00000428483.1:p.Leu391Ile
ENST00000520356.5:c.1171C>A	ENSP00000427879.1:p.Leu391Ile
ENST00000520727.5:c.1171C>A	ENSP00000427831.1:p.Leu391Ile
ENST00000522974.5:n.1312C>A
ENST00000523243.5:c.1207C>A	ENSP00000429930.1:p.Leu403Ile
ENST00000523399.5:c.1021C>A	ENSP00000429091.1:p.Leu341Ile
ENST00000523924.5:c.*1189C>A	ENSP00000429050.1:n.*1189C>A
NM_001029939.3:c.1171C>A	NP_001025110.2:p.Leu391Ile
NM_001167583.2:c.1171C>A	NP_001161055.1:p.Leu391Ile
NM_001174157.1:c.1021C>A	NP_001167628.1:p.Leu341Ile
NM_001174158.1:c.1171C>A	NP_001167629.1:p.Leu391Ile
NM_001289394.1:c.1171C>A	NP_001276323.1:p.Leu391Ile
NM_020863.3:c.1207C>A	NP_065914.2:p.Leu403Ile
NR_110323.1:n.1393C>A
XM_011517203.1:c.1171C>A	XP_011515505.1:p.Leu391Ile
XM_011517204.1:c.1021C>A	XP_011515506.1:p.Leu341Ile
XM_011517205.1:c.1171C>A	XP_011515507.1:p.Leu391Ile
XM_011517206.1:c.1171C>A	XP_011515508.1:p.Leu391Ile
XR_928343.1:n.1188C>A
XM_011517204.2:c.1021C>A	XP_011515506.1:p.Leu341Ile
XM_011517206.2:c.1171C>A	XP_011515508.1:p.Leu391Ile
XM_017013716.1:c.1171C>A	XP_016869205.1:p.Leu391Ile
XR_001745568.1:n.1188C>A
XR_001745569.1:n.1188C>A
XR_001745570.1:n.1188C>A
XR_928343.2:n.1188C>A
NM_020863.4:c.1207C>A MANE Select	NP_065914.2:p.Leu403Ile
NM_001029939.4:c.1171C>A	NP_001025110.2:p.Leu391Ile
NM_001167583.3:c.1171C>A	NP_001161055.1:p.Leu391Ile
NM_001174157.2:c.1021C>A	NP_001167628.1:p.Leu341Ile
NM_001174158.2:c.1171C>A	NP_001167629.1:p.Leu391Ile
NM_001289394.2:c.1171C>A	NP_001276323.1:p.Leu391Ile
NR_110323.2:n.1375C>A