Canonical Allele Identifier: CA372079928
Gene: ZFAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2479998
ClinVar RCV Id: RCV004269913

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.134602292T>C , CM000670.2:g.134602292T>C GRCh38
NC_000008.10:g.135614535T>C , CM000670.1:g.135614535T>C GRCh37
NC_000008.9:g.135683717T>C NCBI36
NG_016356.1:g.115758A>G
NG_016356.2:g.115758A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377838.8:c.1427A>G MANE Select ENSP00000367069.3:p.His476Arg
ENST00000377838.7:c.1427A>G ENSP00000367069.3:p.His476Arg
ENST00000429442.6:c.1391A>G ENSP00000394501.2:p.His464Arg
ENST00000520214.5:c.1391A>G ENSP00000428483.1:p.His464Arg
ENST00000520356.5:c.1391A>G ENSP00000427879.1:p.His464Arg
ENST00000520727.5:c.1391A>G ENSP00000427831.1:p.His464Arg
ENST00000522974.5:n.1532A>G
ENST00000523243.5:c.1427A>G ENSP00000429930.1:p.His476Arg
ENST00000523399.5:c.1241A>G ENSP00000429091.1:p.His414Arg
ENST00000523924.5:c.*1409A>G ENSP00000429050.1:n.*1409A>G
NM_001029939.3:c.1391A>G NP_001025110.2:p.His464Arg
NM_001167583.2:c.1391A>G NP_001161055.1:p.His464Arg
NM_001174157.1:c.1241A>G NP_001167628.1:p.His414Arg
NM_001174158.1:c.1391A>G NP_001167629.1:p.His464Arg
NM_001289394.1:c.1391A>G NP_001276323.1:p.His464Arg
NM_020863.3:c.1427A>G NP_065914.2:p.His476Arg
NR_110323.1:n.1613A>G
XM_011517203.1:c.1391A>G XP_011515505.1:p.His464Arg
XM_011517204.1:c.1241A>G XP_011515506.1:p.His414Arg
XM_011517205.1:c.1391A>G XP_011515507.1:p.His464Arg
XM_011517206.1:c.1391A>G XP_011515508.1:p.His464Arg
XR_928343.1:n.1408A>G
XM_011517204.2:c.1241A>G XP_011515506.1:p.His414Arg
XM_011517206.2:c.1391A>G XP_011515508.1:p.His464Arg
XM_017013716.1:c.1391A>G XP_016869205.1:p.His464Arg
XR_001745568.1:n.1408A>G
XR_001745569.1:n.1408A>G
XR_001745570.1:n.1408A>G
XR_928343.2:n.1408A>G
NM_020863.4:c.1427A>G MANE Select NP_065914.2:p.His476Arg
NM_001029939.4:c.1391A>G NP_001025110.2:p.His464Arg
NM_001167583.3:c.1391A>G NP_001161055.1:p.His464Arg
NM_001174157.2:c.1241A>G NP_001167628.1:p.His414Arg
NM_001174158.2:c.1391A>G NP_001167629.1:p.His464Arg
NM_001289394.2:c.1391A>G NP_001276323.1:p.His464Arg
NR_110323.2:n.1595A>G