Canonical Allele Identifier: CA361958974

Gene: ITK

Linked Data

• MyVariant Identifiers: chr5:g.156668698A>C (hg19) ; chr5:g.157241688A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241688A>C , CM000667.2:g.157241688A>C	GRCh38
NC_000005.9:g.156668698A>C , CM000667.1:g.156668698A>C	GRCh37
NC_000005.8:g.156601276A>C	NCBI36
NG_016276.1:g.65792A>C , LRG_189:g.65792A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696962.1:c.894A>C	ENSP00000513001.1:p.Ala298=
ENST00000422843.8:c.1028A>C MANE Select	ENSP00000398655.4:p.Gln343Pro
ENST00000422843.7:c.1028A>C	ENSP00000398655.3:p.Gln343Pro
ENST00000519402.5:n.2613A>C
ENST00000519749.1:n.98A>C
ENST00000520173.1:n.146A>C
NM_005546.3:c.1028A>C , LRG_189t1:c.1028A>C	NP_005537.3:p.Gln343Pro
XM_017009443.1:c.653A>C	XP_016864932.1:p.Gln218Pro
NM_005546.4:c.1028A>C MANE Select	NP_005537.3:p.Gln343Pro