Canonical Allele Identifier: CA4888033

Gene: ZFAT

Linked Data

• dbSNP Id: rs374372896
• ExAC: 8:135614541 C / T
• gnomAD v2: 8-135614541-C-T
• gnomAD v3: 8-134602298-C-T
• gnomAD v4: 8-134602298-C-T
• COSMIC: COSM294966 ; COSM294967
• MyVariant Identifiers: chr8:g.135614541C>T (hg19) ; chr8:g.134602298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.134602298C>T , CM000670.2:g.134602298C>T	GRCh38
NC_000008.10:g.135614541C>T , CM000670.1:g.135614541C>T	GRCh37
NC_000008.9:g.135683723C>T	NCBI36
NG_016356.1:g.115752G>A
NG_016356.2:g.115752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377838.8:c.1421G>A MANE Select	ENSP00000367069.3:p.Arg474His
ENST00000377838.7:c.1421G>A	ENSP00000367069.3:p.Arg474His
ENST00000429442.6:c.1385G>A	ENSP00000394501.2:p.Arg462His
ENST00000520214.5:c.1385G>A	ENSP00000428483.1:p.Arg462His
ENST00000520356.5:c.1385G>A	ENSP00000427879.1:p.Arg462His
ENST00000520727.5:c.1385G>A	ENSP00000427831.1:p.Arg462His
ENST00000522974.5:n.1526G>A
ENST00000523243.5:c.1421G>A	ENSP00000429930.1:p.Arg474His
ENST00000523399.5:c.1235G>A	ENSP00000429091.1:p.Arg412His
ENST00000523924.5:c.*1403G>A	ENSP00000429050.1:n.*1403G>A
NM_001029939.3:c.1385G>A	NP_001025110.2:p.Arg462His
NM_001167583.2:c.1385G>A	NP_001161055.1:p.Arg462His
NM_001174157.1:c.1235G>A	NP_001167628.1:p.Arg412His
NM_001174158.1:c.1385G>A	NP_001167629.1:p.Arg462His
NM_001289394.1:c.1385G>A	NP_001276323.1:p.Arg462His
NM_020863.3:c.1421G>A	NP_065914.2:p.Arg474His
NR_110323.1:n.1607G>A
XM_011517203.1:c.1385G>A	XP_011515505.1:p.Arg462His
XM_011517204.1:c.1235G>A	XP_011515506.1:p.Arg412His
XM_011517205.1:c.1385G>A	XP_011515507.1:p.Arg462His
XM_011517206.1:c.1385G>A	XP_011515508.1:p.Arg462His
XR_928343.1:n.1402G>A
XM_011517204.2:c.1235G>A	XP_011515506.1:p.Arg412His
XM_011517206.2:c.1385G>A	XP_011515508.1:p.Arg462His
XM_017013716.1:c.1385G>A	XP_016869205.1:p.Arg462His
XR_001745568.1:n.1402G>A
XR_001745569.1:n.1402G>A
XR_001745570.1:n.1402G>A
XR_928343.2:n.1402G>A
NM_020863.4:c.1421G>A MANE Select	NP_065914.2:p.Arg474His
NM_001029939.4:c.1385G>A	NP_001025110.2:p.Arg462His
NM_001167583.3:c.1385G>A	NP_001161055.1:p.Arg462His
NM_001174157.2:c.1235G>A	NP_001167628.1:p.Arg412His
NM_001174158.2:c.1385G>A	NP_001167629.1:p.Arg462His
NM_001289394.2:c.1385G>A	NP_001276323.1:p.Arg462His
NR_110323.2:n.1589G>A