Canonical Allele Identifier: CA361958898

Gene: ITK

Linked Data

• dbSNP Id: rs1344120880
• gnomAD v2: 5-156668677-A-G
• gnomAD v4: 5-157241667-A-G
• MyVariant Identifiers: chr5:g.156668677A>G (hg19) ; chr5:g.157241667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241667A>G , CM000667.2:g.157241667A>G	GRCh38
NC_000005.9:g.156668677A>G , CM000667.1:g.156668677A>G	GRCh37
NC_000005.8:g.156601255A>G	NCBI36
NG_016276.1:g.65771A>G , LRG_189:g.65771A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696962.1:c.873A>G	ENSP00000513001.1:p.Val291=
ENST00000422843.8:c.1007A>G MANE Select	ENSP00000398655.4:p.Tyr336Cys
ENST00000422843.7:c.1007A>G	ENSP00000398655.3:p.Tyr336Cys
ENST00000519402.5:n.2592A>G
ENST00000519749.1:n.77A>G
ENST00000520173.1:n.125A>G
NM_005546.3:c.1007A>G , LRG_189t1:c.1007A>G	NP_005537.3:p.Tyr336Cys
XM_017009443.1:c.632A>G	XP_016864932.1:p.Tyr211Cys
NM_005546.4:c.1007A>G MANE Select	NP_005537.3:p.Tyr336Cys