Canonical Allele Identifier: CA122669
Gene: ITK HGNC NCBI

Linked Data

ClinVar Variation Id: 12741
ClinVar RCV Id: RCV000013578
dbSNP Id: rs121908191

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157241663C>T , CM000667.2:g.157241663C>T GRCh38
NC_000005.9:g.156668673C>T , CM000667.1:g.156668673C>T GRCh37
NC_000005.8:g.156601251C>T NCBI36
NG_016276.1:g.65767C>T , LRG_189:g.65767C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696962.1:c.869C>T ENSP00000513001.1:p.Pro290Leu
ENST00000422843.8:c.1003C>T MANE Select ENSP00000398655.4:p.Arg335Trp
ENST00000422843.7:c.1003C>T ENSP00000398655.3:p.Arg335Trp
ENST00000519402.5:n.2588C>T
ENST00000519749.1:n.73C>T
ENST00000520173.1:n.121C>T
NM_005546.3:c.1003C>T , LRG_189t1:c.1003C>T NP_005537.3:p.Arg335Trp
XM_017009443.1:c.628C>T XP_016864932.1:p.Arg210Trp
NM_005546.4:c.1003C>T MANE Select NP_005537.3:p.Arg335Trp