Canonical Allele Identifier: CA070999
Gene: ZAP70 HGNC NCBI

Linked Data

ClinVar Variation Id: 222951
dbSNP Id: rs199840952
gnomAD v2: 2-98349356-C-T
gnomAD v3: 2-97732893-C-T
gnomAD v4: 2-97732893-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.97732893C>T , CM000664.2:g.97732893C>T GRCh38
NC_000002.11:g.98349356C>T , CM000664.1:g.98349356C>T GRCh37
NC_000002.10:g.97715788C>T NCBI36
NG_007727.1:g.24326C>T , LRG_126:g.24326C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698508.1:c.574C>T ENSP00000513759.1:p.Arg192Trp
ENST00000698509.1:n.714C>T
ENST00000264972.10:c.574C>T MANE Select ENSP00000264972.5:p.Arg192Trp
ENST00000264972.9:c.574C>T ENSP00000264972.5:p.Arg192Trp
ENST00000463643.5:n.435C>T
ENST00000483781.5:n.767C>T
ENST00000498836.5:n.192C>T
NM_001079.3:c.574C>T , LRG_126t1:c.574C>T NP_001070.2:p.Arg192Trp
XM_005264015.3:c.574C>T XP_005264072.1:p.Arg192Trp
XM_006712728.2:c.574C>T XP_006712791.1:p.Arg192Trp
XM_011511783.1:c.574C>T XP_011510085.1:p.Arg192Trp
XR_923018.1:n.776C>T
XR_923019.1:n.776C>T
XR_923020.1:n.776C>T
XM_017004867.1:c.943C>T XP_016860356.1:p.Arg315Trp
XM_017004868.1:c.943C>T XP_016860357.1:p.Arg315Trp
XM_017004869.1:c.943C>T XP_016860358.1:p.Arg315Trp
XM_017004870.1:c.943C>T XP_016860359.1:p.Arg315Trp
XR_001738925.1:n.2182C>T
XR_001738926.1:n.2182C>T
XR_001738927.1:n.2182C>T
NM_001079.4:c.574C>T MANE Select NP_001070.2:p.Arg192Trp
NM_001378594.1:c.574C>T NP_001365523.1:p.Arg192Trp