Canonical Allele Identifier: CA4888021

Gene: ZFAT

Linked Data

• ClinVar Variation Id: 2552681
• ClinVar RCV Id: RCV004324408
• dbSNP Id: rs759416037
• ExAC: 8:135614487 C / A
• gnomAD v2: 8-135614487-C-A
• gnomAD v4: 8-134602244-C-A
• MyVariant Identifiers: chr8:g.135614487C>A (hg19) ; chr8:g.134602244C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.134602244C>A , CM000670.2:g.134602244C>A	GRCh38
NC_000008.10:g.135614487C>A , CM000670.1:g.135614487C>A	GRCh37
NC_000008.9:g.135683669C>A	NCBI36
NG_016356.1:g.115806G>T
NG_016356.2:g.115806G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377838.8:c.1475G>T MANE Select	ENSP00000367069.3:p.Ser492Ile
ENST00000377838.7:c.1475G>T	ENSP00000367069.3:p.Ser492Ile
ENST00000429442.6:c.1439G>T	ENSP00000394501.2:p.Ser480Ile
ENST00000520214.5:c.1439G>T	ENSP00000428483.1:p.Ser480Ile
ENST00000520356.5:c.1439G>T	ENSP00000427879.1:p.Ser480Ile
ENST00000520727.5:c.1439G>T	ENSP00000427831.1:p.Ser480Ile
ENST00000522974.5:n.1580G>T
ENST00000523243.5:c.1475G>T	ENSP00000429930.1:p.Ser492Ile
ENST00000523399.5:c.1289G>T	ENSP00000429091.1:p.Ser430Ile
ENST00000523924.5:c.*1457G>T	ENSP00000429050.1:n.*1457G>T
NM_001029939.3:c.1439G>T	NP_001025110.2:p.Ser480Ile
NM_001167583.2:c.1439G>T	NP_001161055.1:p.Ser480Ile
NM_001174157.1:c.1289G>T	NP_001167628.1:p.Ser430Ile
NM_001174158.1:c.1439G>T	NP_001167629.1:p.Ser480Ile
NM_001289394.1:c.1439G>T	NP_001276323.1:p.Ser480Ile
NM_020863.3:c.1475G>T	NP_065914.2:p.Ser492Ile
NR_110323.1:n.1661G>T
XM_011517203.1:c.1439G>T	XP_011515505.1:p.Ser480Ile
XM_011517204.1:c.1289G>T	XP_011515506.1:p.Ser430Ile
XM_011517205.1:c.1439G>T	XP_011515507.1:p.Ser480Ile
XM_011517206.1:c.1439G>T	XP_011515508.1:p.Ser480Ile
XR_928343.1:n.1456G>T
XM_011517204.2:c.1289G>T	XP_011515506.1:p.Ser430Ile
XM_011517206.2:c.1439G>T	XP_011515508.1:p.Ser480Ile
XM_017013716.1:c.1439G>T	XP_016869205.1:p.Ser480Ile
XR_001745568.1:n.1456G>T
XR_001745569.1:n.1456G>T
XR_001745570.1:n.1456G>T
XR_928343.2:n.1456G>T
NM_020863.4:c.1475G>T MANE Select	NP_065914.2:p.Ser492Ile
NM_001029939.4:c.1439G>T	NP_001025110.2:p.Ser480Ile
NM_001167583.3:c.1439G>T	NP_001161055.1:p.Ser480Ile
NM_001174157.2:c.1289G>T	NP_001167628.1:p.Ser430Ile
NM_001174158.2:c.1439G>T	NP_001167629.1:p.Ser480Ile
NM_001289394.2:c.1439G>T	NP_001276323.1:p.Ser480Ile
NR_110323.2:n.1643G>T