Canonical Allele Identifier: CA4888012

Gene: ZFAT

Linked Data

• dbSNP Id: rs770010050
• ExAC: 8:135614412 T / C
• gnomAD v2: 8-135614412-T-C
• gnomAD v4: 8-134602169-T-C
• MyVariant Identifiers: chr8:g.135614412T>C (hg19) ; chr8:g.134602169T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.134602169T>C , CM000670.2:g.134602169T>C	GRCh38
NC_000008.10:g.135614412T>C , CM000670.1:g.135614412T>C	GRCh37
NC_000008.9:g.135683594T>C	NCBI36
NG_016356.1:g.115881A>G
NG_016356.2:g.115881A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377838.8:c.1550A>G MANE Select	ENSP00000367069.3:p.Gln517Arg
ENST00000377838.7:c.1550A>G	ENSP00000367069.3:p.Gln517Arg
ENST00000429442.6:c.1514A>G	ENSP00000394501.2:p.Gln505Arg
ENST00000520214.5:c.1514A>G	ENSP00000428483.1:p.Gln505Arg
ENST00000520356.5:c.1514A>G	ENSP00000427879.1:p.Gln505Arg
ENST00000520727.5:c.1514A>G	ENSP00000427831.1:p.Gln505Arg
ENST00000522974.5:n.1655A>G
ENST00000523243.5:c.1550A>G	ENSP00000429930.1:p.Gln517Arg
ENST00000523399.5:c.1364A>G	ENSP00000429091.1:p.Gln455Arg
ENST00000523924.5:c.*1532A>G	ENSP00000429050.1:n.*1532A>G
NM_001029939.3:c.1514A>G	NP_001025110.2:p.Gln505Arg
NM_001167583.2:c.1514A>G	NP_001161055.1:p.Gln505Arg
NM_001174157.1:c.1364A>G	NP_001167628.1:p.Gln455Arg
NM_001174158.1:c.1514A>G	NP_001167629.1:p.Gln505Arg
NM_001289394.1:c.1514A>G	NP_001276323.1:p.Gln505Arg
NM_020863.3:c.1550A>G	NP_065914.2:p.Gln517Arg
NR_110323.1:n.1736A>G
XM_011517203.1:c.1514A>G	XP_011515505.1:p.Gln505Arg
XM_011517204.1:c.1364A>G	XP_011515506.1:p.Gln455Arg
XM_011517205.1:c.1514A>G	XP_011515507.1:p.Gln505Arg
XM_011517206.1:c.1514A>G	XP_011515508.1:p.Gln505Arg
XR_928343.1:n.1531A>G
XM_011517204.2:c.1364A>G	XP_011515506.1:p.Gln455Arg
XM_011517206.2:c.1514A>G	XP_011515508.1:p.Gln505Arg
XM_017013716.1:c.1514A>G	XP_016869205.1:p.Gln505Arg
XR_001745568.1:n.1531A>G
XR_001745569.1:n.1531A>G
XR_001745570.1:n.1531A>G
XR_928343.2:n.1531A>G
NM_020863.4:c.1550A>G MANE Select	NP_065914.2:p.Gln517Arg
NM_001029939.4:c.1514A>G	NP_001025110.2:p.Gln505Arg
NM_001167583.3:c.1514A>G	NP_001161055.1:p.Gln505Arg
NM_001174157.2:c.1364A>G	NP_001167628.1:p.Gln455Arg
NM_001174158.2:c.1514A>G	NP_001167629.1:p.Gln505Arg
NM_001289394.2:c.1514A>G	NP_001276323.1:p.Gln505Arg
NR_110323.2:n.1718A>G