Canonical Allele Identifier: CA372082010

Gene: ZFAT

Linked Data

• dbSNP Id: rs1422285535
• gnomAD v2: 8-135622852-A-C
• gnomAD v3: 8-134610609-A-C
• gnomAD v4: 8-134610609-A-C
• MyVariant Identifiers: chr8:g.135622852A>C (hg19) ; chr8:g.134610609A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.134610609A>C , CM000670.2:g.134610609A>C	GRCh38
NC_000008.10:g.135622852A>C , CM000670.1:g.135622852A>C	GRCh37
NC_000008.9:g.135692034A>C	NCBI36
NG_016356.1:g.107441T>G
NG_016356.2:g.107441T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377838.8:c.495T>G MANE Select	ENSP00000367069.3:p.Asp165Glu
ENST00000377838.7:c.495T>G	ENSP00000367069.3:p.Asp165Glu
ENST00000429442.6:c.459T>G	ENSP00000394501.2:p.Asp153Glu
ENST00000518191.1:c.413-1730T>G	ENSP00000428192.1:n.413-1730T>G
ENST00000520214.5:c.459T>G	ENSP00000428483.1:p.Asp153Glu
ENST00000520356.5:c.459T>G	ENSP00000427879.1:p.Asp153Glu
ENST00000520727.5:c.459T>G	ENSP00000427831.1:p.Asp153Glu
ENST00000522257.5:c.309T>G	ENSP00000429983.1:p.Asp103Glu
ENST00000522974.5:n.600T>G
ENST00000523040.1:n.180T>G
ENST00000523243.5:c.495T>G	ENSP00000429930.1:p.Asp165Glu
ENST00000523399.5:c.449-1730T>G	ENSP00000429091.1:n.449-1730T>G
ENST00000523924.5:c.*477T>G	ENSP00000429050.1:n.*477T>G
NM_001029939.3:c.459T>G	NP_001025110.2:p.Asp153Glu
NM_001167583.2:c.459T>G	NP_001161055.1:p.Asp153Glu
NM_001174157.1:c.449-1730T>G	NP_001167628.1:n.449-1730T>G
NM_001174158.1:c.459T>G	NP_001167629.1:p.Asp153Glu
NM_001289394.1:c.459T>G	NP_001276323.1:p.Asp153Glu
NM_020863.3:c.495T>G	NP_065914.2:p.Asp165Glu
NR_110323.1:n.681T>G
XM_011517203.1:c.459T>G	XP_011515505.1:p.Asp153Glu
XM_011517204.1:c.309T>G	XP_011515506.1:p.Asp103Glu
XM_011517205.1:c.459T>G	XP_011515507.1:p.Asp153Glu
XM_011517206.1:c.459T>G	XP_011515508.1:p.Asp153Glu
XR_928343.1:n.476T>G
XM_011517204.2:c.309T>G	XP_011515506.1:p.Asp103Glu
XM_011517206.2:c.459T>G	XP_011515508.1:p.Asp153Glu
XM_017013716.1:c.459T>G	XP_016869205.1:p.Asp153Glu
XR_001745568.1:n.476T>G
XR_001745569.1:n.476T>G
XR_001745570.1:n.476T>G
XR_928343.2:n.476T>G
NM_020863.4:c.495T>G MANE Select	NP_065914.2:p.Asp165Glu
NM_001029939.4:c.459T>G	NP_001025110.2:p.Asp153Glu
NM_001167583.3:c.459T>G	NP_001161055.1:p.Asp153Glu
NM_001174157.2:c.449-1730T>G	NP_001167628.1:n.449-1730T>G
NM_001174158.2:c.459T>G	NP_001167629.1:p.Asp153Glu
NM_001289394.2:c.459T>G	NP_001276323.1:p.Asp153Glu
NR_110323.2:n.663T>G