Canonical Allele Identifier: CA130150960
Gene: ITK HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157180883A>G
GRCh37 chr5:g.156607894A>G
gnomAD v2:
5:156607894 A / G
gnomAD v3:
5:157180883 A / G
gnomAD v4:
chr5-157180883-A-G
Joint Max Group AF 0.00345401 (EAS)
Genomes Max Group AF 0.00163055 (EAS)
Exomes Max Group AF 0.00358228 (EAS)
ClinVar RCV:
RCV001154251
ClinVar Variation:
905614
dbSNP:
117806853
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157180883A>G , CM000667.2:g.157180883A>G GRCh38
NC_000005.9:g.156607894A>G , CM000667.1:g.156607894A>G GRCh37
NC_000005.8:g.156540472A>G NCBI36
NG_016276.1:g.4988A>G , LRG_189:g.4988A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.-95A>G ENSP00000513001.1:n.-95A>G
ENST00000422843.8:c.-95A>G MANE Select ENSP00000398655.4:n.-95A>G
ENST00000422843.7:c.-95A>G ENSP00000398655.3:n.-95A>G
ENST00000517779.1:c.-95A>G ENSP00000431054.1:n.-95A>G
ENST00000519402.5:n.41A>G
ENST00000520555.5:n.44A>G
ENST00000521769.5:c.-238+14737A>G ENSP00000430327.1:n.-238+14737A>G
ENST00000522616.1:n.47A>G
NM_005546.4:c.-95A>G MANE Select NP_005537.3:n.-95A>G
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