Canonical Allele Identifier: CA186406943

Gene: ZFAT

Linked Data

• dbSNP Id: rs370367994
• gnomAD v2: 8-135614735-A-G
• gnomAD v3: 8-134602492-A-G
• gnomAD v4: 8-134602492-A-G
• MyVariant Identifiers: chr8:g.135614735A>G (hg19) ; chr8:g.134602492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.134602492A>G , CM000670.2:g.134602492A>G	GRCh38
NC_000008.10:g.135614735A>G , CM000670.1:g.135614735A>G	GRCh37
NC_000008.9:g.135683917A>G	NCBI36
NG_016356.1:g.115558T>C
NG_016356.2:g.115558T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377838.8:c.1227T>C MANE Select	ENSP00000367069.3:p.Cys409=
ENST00000377838.7:c.1227T>C	ENSP00000367069.3:p.Cys409=
ENST00000429442.6:c.1191T>C	ENSP00000394501.2:p.Cys397=
ENST00000520214.5:c.1191T>C	ENSP00000428483.1:p.Cys397=
ENST00000520356.5:c.1191T>C	ENSP00000427879.1:p.Cys397=
ENST00000520727.5:c.1191T>C	ENSP00000427831.1:p.Cys397=
ENST00000522974.5:n.1332T>C
ENST00000523243.5:c.1227T>C	ENSP00000429930.1:p.Cys409=
ENST00000523399.5:c.1041T>C	ENSP00000429091.1:p.Cys347=
ENST00000523924.5:c.*1209T>C	ENSP00000429050.1:n.*1209T>C
NM_001029939.3:c.1191T>C	NP_001025110.2:p.Cys397=
NM_001167583.2:c.1191T>C	NP_001161055.1:p.Cys397=
NM_001174157.1:c.1041T>C	NP_001167628.1:p.Cys347=
NM_001174158.1:c.1191T>C	NP_001167629.1:p.Cys397=
NM_001289394.1:c.1191T>C	NP_001276323.1:p.Cys397=
NM_020863.3:c.1227T>C	NP_065914.2:p.Cys409=
NR_110323.1:n.1413T>C
XM_011517203.1:c.1191T>C	XP_011515505.1:p.Cys397=
XM_011517204.1:c.1041T>C	XP_011515506.1:p.Cys347=
XM_011517205.1:c.1191T>C	XP_011515507.1:p.Cys397=
XM_011517206.1:c.1191T>C	XP_011515508.1:p.Cys397=
XR_928343.1:n.1208T>C
XM_011517204.2:c.1041T>C	XP_011515506.1:p.Cys347=
XM_011517206.2:c.1191T>C	XP_011515508.1:p.Cys397=
XM_017013716.1:c.1191T>C	XP_016869205.1:p.Cys397=
XR_001745568.1:n.1208T>C
XR_001745569.1:n.1208T>C
XR_001745570.1:n.1208T>C
XR_928343.2:n.1208T>C
NM_020863.4:c.1227T>C MANE Select	NP_065914.2:p.Cys409=
NM_001029939.4:c.1191T>C	NP_001025110.2:p.Cys397=
NM_001167583.3:c.1191T>C	NP_001161055.1:p.Cys397=
NM_001174157.2:c.1041T>C	NP_001167628.1:p.Cys347=
NM_001174158.2:c.1191T>C	NP_001167629.1:p.Cys397=
NM_001289394.2:c.1191T>C	NP_001276323.1:p.Cys397=
NR_110323.2:n.1395T>C