Canonical Allele Identifier: CA3532609
Gene: ITK HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157181010C>A
GRCh37 chr5:g.156608021C>A
gnomAD v2:
5:156608021 C / A
gnomAD v3:
5:157181010 C / A
gnomAD v4:
chr5-157181010-C-A
Joint Max Group AF 0.00022773 (SAS)
Genomes Max Group AF 0.00028159 (SAS)
Exomes Max Group AF 0.00020136 (SAS)
ClinVar RCV:
RCV001402070
RCV002264298
ClinVar Variation:
1084872
dbSNP:
765948222
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157181010C>A , CM000667.2:g.157181010C>A GRCh38
NC_000005.9:g.156608021C>A , CM000667.1:g.156608021C>A GRCh37
NC_000005.8:g.156540599C>A NCBI36
NG_016276.1:g.5115C>A , LRG_189:g.5115C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.33C>A ENSP00000513001.1:p.Leu11=
ENST00000422843.8:c.33C>A MANE Select ENSP00000398655.4:p.Leu11=
ENST00000422843.7:c.33C>A ENSP00000398655.3:p.Leu11=
ENST00000517779.1:c.33C>A ENSP00000431054.1:p.Leu11=
ENST00000519402.5:n.168C>A
ENST00000520555.5:n.171C>A
ENST00000521769.5:c.-238+14864C>A ENSP00000430327.1:n.-238+14864C>A
ENST00000522616.1:n.174C>A
NM_005546.3:c.33C>A , LRG_189t1:c.33C>A NP_005537.3:p.Leu11=
NM_005546.4:c.33C>A MANE Select NP_005537.3:p.Leu11=
Search 100 bp 5'
Search 100 bp 3'