Canonical Allele Identifier: CA372080233

Gene: ZFAT

Linked Data

• MyVariant Identifiers: chr8:g.135614676T>G (hg19) ; chr8:g.134602433T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.134602433T>G , CM000670.2:g.134602433T>G	GRCh38
NC_000008.10:g.135614676T>G , CM000670.1:g.135614676T>G	GRCh37
NC_000008.9:g.135683858T>G	NCBI36
NG_016356.1:g.115617A>C
NG_016356.2:g.115617A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377838.8:c.1286A>C MANE Select	ENSP00000367069.3:p.Lys429Thr
ENST00000377838.7:c.1286A>C	ENSP00000367069.3:p.Lys429Thr
ENST00000429442.6:c.1250A>C	ENSP00000394501.2:p.Lys417Thr
ENST00000520214.5:c.1250A>C	ENSP00000428483.1:p.Lys417Thr
ENST00000520356.5:c.1250A>C	ENSP00000427879.1:p.Lys417Thr
ENST00000520727.5:c.1250A>C	ENSP00000427831.1:p.Lys417Thr
ENST00000522974.5:n.1391A>C
ENST00000523243.5:c.1286A>C	ENSP00000429930.1:p.Lys429Thr
ENST00000523399.5:c.1100A>C	ENSP00000429091.1:p.Lys367Thr
ENST00000523924.5:c.*1268A>C	ENSP00000429050.1:n.*1268A>C
NM_001029939.3:c.1250A>C	NP_001025110.2:p.Lys417Thr
NM_001167583.2:c.1250A>C	NP_001161055.1:p.Lys417Thr
NM_001174157.1:c.1100A>C	NP_001167628.1:p.Lys367Thr
NM_001174158.1:c.1250A>C	NP_001167629.1:p.Lys417Thr
NM_001289394.1:c.1250A>C	NP_001276323.1:p.Lys417Thr
NM_020863.3:c.1286A>C	NP_065914.2:p.Lys429Thr
NR_110323.1:n.1472A>C
XM_011517203.1:c.1250A>C	XP_011515505.1:p.Lys417Thr
XM_011517204.1:c.1100A>C	XP_011515506.1:p.Lys367Thr
XM_011517205.1:c.1250A>C	XP_011515507.1:p.Lys417Thr
XM_011517206.1:c.1250A>C	XP_011515508.1:p.Lys417Thr
XR_928343.1:n.1267A>C
XM_011517204.2:c.1100A>C	XP_011515506.1:p.Lys367Thr
XM_011517206.2:c.1250A>C	XP_011515508.1:p.Lys417Thr
XM_017013716.1:c.1250A>C	XP_016869205.1:p.Lys417Thr
XR_001745568.1:n.1267A>C
XR_001745569.1:n.1267A>C
XR_001745570.1:n.1267A>C
XR_928343.2:n.1267A>C
NM_020863.4:c.1286A>C MANE Select	NP_065914.2:p.Lys429Thr
NM_001029939.4:c.1250A>C	NP_001025110.2:p.Lys417Thr
NM_001167583.3:c.1250A>C	NP_001161055.1:p.Lys417Thr
NM_001174157.2:c.1100A>C	NP_001167628.1:p.Lys367Thr
NM_001174158.2:c.1250A>C	NP_001167629.1:p.Lys417Thr
NM_001289394.2:c.1250A>C	NP_001276323.1:p.Lys417Thr
NR_110323.2:n.1454A>C