Canonical Allele Identifier: CA16617776
Gene: ZAP70 HGNC NCBI

Linked Data

ClinVar Variation Id: 418550
dbSNP Id: rs1017182331
gnomAD v4: 2-97739386-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.97739386G>A , CM000664.2:g.97739386G>A GRCh38
NC_000002.11:g.98355849G>A , CM000664.1:g.98355849G>A GRCh37
NC_000002.10:g.97722281G>A NCBI36
NG_007727.1:g.30819G>A , LRG_126:g.30819G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698508.1:c.1748G>A ENSP00000513759.1:p.Arg583His
ENST00000698509.1:n.1888G>A
ENST00000264972.10:c.1748G>A MANE Select ENSP00000264972.5:p.Arg583His
ENST00000264972.9:c.1748G>A ENSP00000264972.5:p.Arg583His
ENST00000451498.2:c.827G>A ENSP00000400475.2:p.Arg276His
ENST00000463643.5:n.1609G>A
ENST00000487283.5:n.2800G>A
NM_001079.3:c.1748G>A , LRG_126t1:c.1748G>A NP_001070.2:p.Arg583His
NM_207519.1:c.827G>A NP_997402.1:p.Arg276His
XM_005264015.3:c.1730G>A XP_005264072.1:p.Arg577His
XM_011511783.1:c.1736+1279G>A XP_011510085.1:n.1736+1279G>A
XR_923018.1:n.1938+1279G>A
XR_923019.1:n.1938+1279G>A
XR_923020.1:n.2159G>A
XM_017004867.1:c.2117G>A XP_016860356.1:p.Arg706His
XM_017004868.1:c.2099G>A XP_016860357.1:p.Arg700His
XM_017004869.1:c.2105+1279G>A XP_016860358.1:n.2105+1279G>A
XR_001738925.1:n.3344+1279G>A
XR_001738926.1:n.3344+1279G>A
XR_001738927.1:n.3565G>A
NM_001079.4:c.1748G>A MANE Select NP_001070.2:p.Arg583His
NM_001378594.1:c.1748G>A NP_001365523.1:p.Arg583His
NM_207519.2:c.827G>A NP_997402.1:p.Arg276His