Canonical Allele Identifier: CA372081819

Gene: ZFAT

Linked Data

• MyVariant Identifiers: chr8:g.135622761T>C (hg19) ; chr8:g.134610518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.134610518T>C , CM000670.2:g.134610518T>C	GRCh38
NC_000008.10:g.135622761T>C , CM000670.1:g.135622761T>C	GRCh37
NC_000008.9:g.135691943T>C	NCBI36
NG_016356.1:g.107532A>G
NG_016356.2:g.107532A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377838.8:c.586A>G MANE Select	ENSP00000367069.3:p.Lys196Glu
ENST00000377838.7:c.586A>G	ENSP00000367069.3:p.Lys196Glu
ENST00000429442.6:c.550A>G	ENSP00000394501.2:p.Lys184Glu
ENST00000518191.1:c.413-1639A>G	ENSP00000428192.1:n.413-1639A>G
ENST00000520214.5:c.550A>G	ENSP00000428483.1:p.Lys184Glu
ENST00000520356.5:c.550A>G	ENSP00000427879.1:p.Lys184Glu
ENST00000520727.5:c.550A>G	ENSP00000427831.1:p.Lys184Glu
ENST00000522257.5:c.400A>G	ENSP00000429983.1:p.Lys134Glu
ENST00000522974.5:n.691A>G
ENST00000523040.1:n.271A>G
ENST00000523243.5:c.586A>G	ENSP00000429930.1:p.Lys196Glu
ENST00000523399.5:c.449-1639A>G	ENSP00000429091.1:n.449-1639A>G
ENST00000523924.5:c.*568A>G	ENSP00000429050.1:n.*568A>G
NM_001029939.3:c.550A>G	NP_001025110.2:p.Lys184Glu
NM_001167583.2:c.550A>G	NP_001161055.1:p.Lys184Glu
NM_001174157.1:c.449-1639A>G	NP_001167628.1:n.449-1639A>G
NM_001174158.1:c.550A>G	NP_001167629.1:p.Lys184Glu
NM_001289394.1:c.550A>G	NP_001276323.1:p.Lys184Glu
NM_020863.3:c.586A>G	NP_065914.2:p.Lys196Glu
NR_110323.1:n.772A>G
XM_011517203.1:c.550A>G	XP_011515505.1:p.Lys184Glu
XM_011517204.1:c.400A>G	XP_011515506.1:p.Lys134Glu
XM_011517205.1:c.550A>G	XP_011515507.1:p.Lys184Glu
XM_011517206.1:c.550A>G	XP_011515508.1:p.Lys184Glu
XR_928343.1:n.567A>G
XM_011517204.2:c.400A>G	XP_011515506.1:p.Lys134Glu
XM_011517206.2:c.550A>G	XP_011515508.1:p.Lys184Glu
XM_017013716.1:c.550A>G	XP_016869205.1:p.Lys184Glu
XR_001745568.1:n.567A>G
XR_001745569.1:n.567A>G
XR_001745570.1:n.567A>G
XR_928343.2:n.567A>G
NM_020863.4:c.586A>G MANE Select	NP_065914.2:p.Lys196Glu
NM_001029939.4:c.550A>G	NP_001025110.2:p.Lys184Glu
NM_001167583.3:c.550A>G	NP_001161055.1:p.Lys184Glu
NM_001174157.2:c.449-1639A>G	NP_001167628.1:n.449-1639A>G
NM_001174158.2:c.550A>G	NP_001167629.1:p.Lys184Glu
NM_001289394.2:c.550A>G	NP_001276323.1:p.Lys184Glu
NR_110323.2:n.754A>G