Canonical Allele Identifier: CA130159444
Gene: ITK HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157244485G>T
GRCh37 chr5:g.156671495G>T
gnomAD v2:
5:156671495 G / T
gnomAD v3:
5:157244485 G / T
gnomAD v4:
chr5-157244485-G-T
Joint Max Group AF 0.00001082 (AFR)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 8.9e-7 (NFE)
ClinVar RCV:
RCV001414144
RCV003900429
ClinVar Variation:
1093836
dbSNP:
779098639
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157244485G>T , CM000667.2:g.157244485G>T GRCh38
NC_000005.9:g.156671495G>T , CM000667.1:g.156671495G>T GRCh37
NC_000005.8:g.156604073G>T NCBI36
NG_016276.1:g.68589G>T , LRG_189:g.68589G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.*226+7G>T ENSP00000513001.1:n.*226+7G>T
ENST00000422843.8:c.1449+7G>T MANE Select ENSP00000398655.4:n.1449+7G>T
ENST00000422843.7:c.1449+7G>T ENSP00000398655.3:n.1449+7G>T
ENST00000519402.5:n.3034+7G>T
ENST00000519749.1:n.519+7G>T
NM_005546.3:c.1449+7G>T , LRG_189t1:c.1449+7G>T NP_005537.3:n.1449+7G>T
XM_017009443.1:c.1074+7G>T XP_016864932.1:n.1074+7G>T
NM_005546.4:c.1449+7G>T MANE Select NP_005537.3:n.1449+7G>T
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