Canonical Allele Identifier: CA3532651
Gene: ITK HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157208914T>C
GRCh37 chr5:g.156635925T>C
Revel Score:
ENST00000422843 (MANE Select) 0.950
gnomAD v2:
5:156635925 T / C
gnomAD v4:
chr5-157208914-T-C
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV001221645
ClinVar Variation:
950030
dbSNP:
200593448
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157208914T>C , CM000667.2:g.157208914T>C GRCh38
NC_000005.9:g.156635925T>C , CM000667.1:g.156635925T>C GRCh37
NC_000005.8:g.156568503T>C NCBI36
NG_016276.1:g.33019T>C , LRG_189:g.33019T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.164T>C ENSP00000513001.1:p.Ile55Thr
ENST00000422843.8:c.164T>C MANE Select ENSP00000398655.4:p.Ile55Thr
ENST00000422843.7:c.164T>C ENSP00000398655.3:p.Ile55Thr
ENST00000517779.1:c.164T>C ENSP00000431054.1:p.Ile55Thr
ENST00000519402.5:n.299T>C
ENST00000520555.5:n.302T>C
ENST00000521769.5:c.-212T>C ENSP00000430327.1:n.-212T>C
NM_005546.3:c.164T>C , LRG_189t1:c.164T>C NP_005537.3:p.Ile55Thr
NM_005546.4:c.164T>C MANE Select NP_005537.3:p.Ile55Thr
Search 100 bp 5'
Search 100 bp 3'