Canonical Allele Identifier: CA372080393
Gene: ZFAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.134602502C>A , CM000670.2:g.134602502C>A GRCh38
NC_000008.10:g.135614745C>A , CM000670.1:g.135614745C>A GRCh37
NC_000008.9:g.135683927C>A NCBI36
NG_016356.1:g.115548G>T
NG_016356.2:g.115548G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377838.8:c.1217G>T MANE Select ENSP00000367069.3:p.Cys406Phe
ENST00000377838.7:c.1217G>T ENSP00000367069.3:p.Cys406Phe
ENST00000429442.6:c.1181G>T ENSP00000394501.2:p.Cys394Phe
ENST00000520214.5:c.1181G>T ENSP00000428483.1:p.Cys394Phe
ENST00000520356.5:c.1181G>T ENSP00000427879.1:p.Cys394Phe
ENST00000520727.5:c.1181G>T ENSP00000427831.1:p.Cys394Phe
ENST00000522974.5:n.1322G>T
ENST00000523243.5:c.1217G>T ENSP00000429930.1:p.Cys406Phe
ENST00000523399.5:c.1031G>T ENSP00000429091.1:p.Cys344Phe
ENST00000523924.5:c.*1199G>T ENSP00000429050.1:n.*1199G>T
NM_001029939.3:c.1181G>T NP_001025110.2:p.Cys394Phe
NM_001167583.2:c.1181G>T NP_001161055.1:p.Cys394Phe
NM_001174157.1:c.1031G>T NP_001167628.1:p.Cys344Phe
NM_001174158.1:c.1181G>T NP_001167629.1:p.Cys394Phe
NM_001289394.1:c.1181G>T NP_001276323.1:p.Cys394Phe
NM_020863.3:c.1217G>T NP_065914.2:p.Cys406Phe
NR_110323.1:n.1403G>T
XM_011517203.1:c.1181G>T XP_011515505.1:p.Cys394Phe
XM_011517204.1:c.1031G>T XP_011515506.1:p.Cys344Phe
XM_011517205.1:c.1181G>T XP_011515507.1:p.Cys394Phe
XM_011517206.1:c.1181G>T XP_011515508.1:p.Cys394Phe
XR_928343.1:n.1198G>T
XM_011517204.2:c.1031G>T XP_011515506.1:p.Cys344Phe
XM_011517206.2:c.1181G>T XP_011515508.1:p.Cys394Phe
XM_017013716.1:c.1181G>T XP_016869205.1:p.Cys394Phe
XR_001745568.1:n.1198G>T
XR_001745569.1:n.1198G>T
XR_001745570.1:n.1198G>T
XR_928343.2:n.1198G>T
NM_020863.4:c.1217G>T MANE Select NP_065914.2:p.Cys406Phe
NM_001029939.4:c.1181G>T NP_001025110.2:p.Cys394Phe
NM_001167583.3:c.1181G>T NP_001161055.1:p.Cys394Phe
NM_001174157.2:c.1031G>T NP_001167628.1:p.Cys344Phe
NM_001174158.2:c.1181G>T NP_001167629.1:p.Cys394Phe
NM_001289394.2:c.1181G>T NP_001276323.1:p.Cys394Phe
NR_110323.2:n.1385G>T