Canonical Allele Identifier: CA427556358

Gene: ZAP70

Linked Data

• ClinVar Variation Id: 753580
• ClinVar RCV Id: RCV001457868
• dbSNP Id: rs1402519359
• gnomAD v3: 2-97737551-C-T
• gnomAD v4: 2-97737551-C-T
• MyVariant Identifiers: chr2:g.98354014C>T (hg19) ; chr2:g.97737551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.97737551C>T , CM000664.2:g.97737551C>T	GRCh38
NC_000002.11:g.98354014C>T , CM000664.1:g.98354014C>T	GRCh37
NC_000002.10:g.97720446C>T	NCBI36
NG_007727.1:g.28984C>T , LRG_126:g.28984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698508.1:c.1368C>T	ENSP00000513759.1:p.Asn456=
ENST00000698509.1:n.1508C>T
ENST00000264972.10:c.1368C>T MANE Select	ENSP00000264972.5:p.Asn456=
ENST00000264972.9:c.1368C>T	ENSP00000264972.5:p.Asn456=
ENST00000451498.2:c.447C>T	ENSP00000400475.2:p.Asn149=
ENST00000463643.5:n.1229C>T
ENST00000487283.5:n.2420C>T
ENST00000495754.1:n.306C>T
NM_001079.3:c.1368C>T , LRG_126t1:c.1368C>T	NP_001070.2:p.Asn456=
NM_207519.1:c.447C>T	NP_997402.1:p.Asn149=
XM_005264015.3:c.1350C>T	XP_005264072.1:p.Asn450=
XM_006712728.2:c.1368C>T	XP_006712791.1:p.Asn456=
XM_011511783.1:c.1368C>T	XP_011510085.1:p.Asn456=
XR_923018.1:n.1570C>T
XR_923019.1:n.1570C>T
XR_923020.1:n.1570C>T
XM_017004867.1:c.1737C>T	XP_016860356.1:p.Asn579=
XM_017004868.1:c.1719C>T	XP_016860357.1:p.Asn573=
XM_017004869.1:c.1737C>T	XP_016860358.1:p.Asn579=
XM_017004870.1:c.1737C>T	XP_016860359.1:p.Asn579=
XR_001738925.1:n.2976C>T
XR_001738926.1:n.2976C>T
XR_001738927.1:n.2976C>T
NM_001079.4:c.1368C>T MANE Select	NP_001070.2:p.Asn456=
NM_001378594.1:c.1368C>T	NP_001365523.1:p.Asn456=
NM_207519.2:c.447C>T	NP_997402.1:p.Asn149=