Canonical Allele Identifier: CA15402895
Gene: ITK HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157181273T>A
GRCh37 chr5:g.156608284T>A
gnomAD v2:
5:156608284 T / A
gnomAD v3:
5:157181273 T / A
gnomAD v4:
chr5-157181273-T-A
Joint Max Group AF 0.29420771 (AFR)
Genomes Max Group AF 0.29420771 (AFR)
ClinVar RCV:
RCV001621356
ClinVar Variation:
1233008
dbSNP:
409602
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157181273T>A , CM000667.2:g.157181273T>A GRCh38
NC_000005.9:g.156608284T>A , CM000667.1:g.156608284T>A GRCh37
NC_000005.8:g.156540862T>A NCBI36
NG_016276.1:g.5378T>A , LRG_189:g.5378T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.138+158T>A ENSP00000513001.1:n.138+158T>A
ENST00000422843.8:c.138+158T>A MANE Select ENSP00000398655.4:n.138+158T>A
ENST00000422843.7:c.138+158T>A ENSP00000398655.3:n.138+158T>A
ENST00000517779.1:c.138+158T>A ENSP00000431054.1:n.138+158T>A
ENST00000519402.5:n.273+158T>A
ENST00000520555.5:n.276+158T>A
ENST00000521769.5:c.-238+15127T>A ENSP00000430327.1:n.-238+15127T>A
ENST00000522616.1:n.279+158T>A
NM_005546.3:c.138+158T>A , LRG_189t1:c.138+158T>A NP_005537.3:n.138+158T>A
NM_005546.4:c.138+158T>A MANE Select NP_005537.3:n.138+158T>A
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