Canonical Allele Identifier: CA447431230
Gene: ITK HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.156668660G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157241650G>C , CM000667.2:g.157241650G>C GRCh38
NC_000005.9:g.156668660G>C , CM000667.1:g.156668660G>C GRCh37
NC_000005.8:g.156601238G>C NCBI36
NG_016276.1:g.65754G>C , LRG_189:g.65754G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.856G>C ENSP00000513001.1:p.Gly286Arg
ENST00000422843.8:c.990G>C MANE Select ENSP00000398655.4:p.Leu330=
ENST00000422843.7:c.990G>C ENSP00000398655.3:p.Leu330=
ENST00000519402.5:n.2575G>C
ENST00000519749.1:n.60G>C
ENST00000520173.1:n.108G>C
NM_005546.3:c.990G>C , LRG_189t1:c.990G>C NP_005537.3:p.Leu330=
XM_017009443.1:c.615G>C XP_016864932.1:p.Leu205=
NM_005546.4:c.990G>C MANE Select NP_005537.3:p.Leu330=