Canonical Allele Identifier: CA361958982

Gene: ITK

Linked Data

• MyVariant Identifiers: chr5:g.156668699G>T (hg19) ; chr5:g.157241689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241689G>T , CM000667.2:g.157241689G>T	GRCh38
NC_000005.9:g.156668699G>T , CM000667.1:g.156668699G>T	GRCh37
NC_000005.8:g.156601277G>T	NCBI36
NG_016276.1:g.65793G>T , LRG_189:g.65793G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696962.1:c.895G>T	ENSP00000513001.1:p.Glu299Ter
ENST00000422843.8:c.1029G>T MANE Select	ENSP00000398655.4:p.Gln343His
ENST00000422843.7:c.1029G>T	ENSP00000398655.3:p.Gln343His
ENST00000519402.5:n.2614G>T
ENST00000519749.1:n.99G>T
ENST00000520173.1:n.147G>T
NM_005546.3:c.1029G>T , LRG_189t1:c.1029G>T	NP_005537.3:p.Gln343His
XM_017009443.1:c.654G>T	XP_016864932.1:p.Gln218His
NM_005546.4:c.1029G>T MANE Select	NP_005537.3:p.Gln343His