Canonical Allele Identifier: CA361958971
Gene: ITK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157241687C>T , CM000667.2:g.157241687C>T GRCh38
NC_000005.9:g.156668697C>T , CM000667.1:g.156668697C>T GRCh37
NC_000005.8:g.156601275C>T NCBI36
NG_016276.1:g.65791C>T , LRG_189:g.65791C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696962.1:c.893C>T ENSP00000513001.1:p.Ala298Val
ENST00000422843.8:c.1027C>T MANE Select ENSP00000398655.4:p.Gln343Ter
ENST00000422843.7:c.1027C>T ENSP00000398655.3:p.Gln343Ter
ENST00000519402.5:n.2612C>T
ENST00000519749.1:n.97C>T
ENST00000520173.1:n.145C>T
NM_005546.3:c.1027C>T , LRG_189t1:c.1027C>T NP_005537.3:p.Gln343Ter
XM_017009443.1:c.652C>T XP_016864932.1:p.Gln218Ter
NM_005546.4:c.1027C>T MANE Select NP_005537.3:p.Gln343Ter