Canonical Allele Identifier: CA12124530
Gene: ITK HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157214034G>A
GRCh37 chr5:g.156641045G>A
gnomAD v2:
5:156641045 G / A
gnomAD v3:
5:157214034 G / A
gnomAD v4:
chr5-157214034-G-A
Joint Max Group AF 0.28368022 (AMR)
Genomes Max Group AF 0.28368022 (AMR)
ClinVar RCV:
RCV001678226
ClinVar Variation:
1267673
dbSNP:
30139
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157214034G>A , CM000667.2:g.157214034G>A GRCh38
NC_000005.9:g.156641045G>A , CM000667.1:g.156641045G>A GRCh37
NC_000005.8:g.156573623G>A NCBI36
NG_016276.1:g.38139G>A , LRG_189:g.38139G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.326-157G>A ENSP00000513001.1:n.326-157G>A
ENST00000422843.8:c.326-157G>A MANE Select ENSP00000398655.4:n.326-157G>A
ENST00000422843.7:c.326-157G>A ENSP00000398655.3:n.326-157G>A
ENST00000517779.1:c.*106-157G>A ENSP00000431054.1:n.*106-157G>A
ENST00000519402.5:n.461-157G>A
ENST00000521769.5:c.-50-157G>A ENSP00000430327.1:n.-50-157G>A
NM_005546.3:c.326-157G>A , LRG_189t1:c.326-157G>A NP_005537.3:n.326-157G>A
XM_017009443.1:c.-50-157G>A XP_016864932.1:n.-50-157G>A
NM_005546.4:c.326-157G>A MANE Select NP_005537.3:n.326-157G>A
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