Canonical Allele Identifier: CA3532661
Gene: ITK HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157208978T>C
GRCh37 chr5:g.156635989T>C
gnomAD v2:
5:156635989 T / C
gnomAD v3:
5:157208978 T / C
gnomAD v4:
chr5-157208978-T-C
Joint Max Group AF 0.00198841 (AFR)
Genomes Max Group AF 0.00224464 (AFR)
Exomes Max Group AF 0.00143073 (AFR)
ClinVar RCV:
RCV000903888
ClinVar Variation:
729272
dbSNP:
140451238
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157208978T>C , CM000667.2:g.157208978T>C GRCh38
NC_000005.9:g.156635989T>C , CM000667.1:g.156635989T>C GRCh37
NC_000005.8:g.156568567T>C NCBI36
NG_016276.1:g.33083T>C , LRG_189:g.33083T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.228T>C ENSP00000513001.1:p.Tyr76=
ENST00000422843.8:c.228T>C MANE Select ENSP00000398655.4:p.Tyr76=
ENST00000422843.7:c.228T>C ENSP00000398655.3:p.Tyr76=
ENST00000517779.1:c.228T>C ENSP00000431054.1:p.Tyr76=
ENST00000519402.5:n.363T>C
ENST00000520555.5:n.366T>C
ENST00000521769.5:c.-148T>C ENSP00000430327.1:n.-148T>C
NM_005546.3:c.228T>C , LRG_189t1:c.228T>C NP_005537.3:p.Tyr76=
NM_005546.4:c.228T>C MANE Select NP_005537.3:p.Tyr76=
Search 100 bp 5'
Search 100 bp 3'