Canonical Allele Identifier: CA361966120
Gene: ITK HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157180987T>C
GRCh37 chr5:g.156607998T>C
Revel Score:
ENST00000422843 (MANE Select) 0.064
gnomAD v2:
5:156607998 T / C
gnomAD v4:
chr5-157180987-T-C
Joint Max Group AF 0.00004283 (AMR)
Exomes Max Group AF 0.00005805 (AMR)
ClinVar RCV:
RCV001905858
ClinVar Variation:
1386742
dbSNP:
1393178996
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157180987T>C , CM000667.2:g.157180987T>C GRCh38
NC_000005.9:g.156607998T>C , CM000667.1:g.156607998T>C GRCh37
NC_000005.8:g.156540576T>C NCBI36
NG_016276.1:g.5092T>C , LRG_189:g.5092T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.10T>C ENSP00000513001.1:p.Phe4Leu
ENST00000422843.8:c.10T>C MANE Select ENSP00000398655.4:p.Phe4Leu
ENST00000422843.7:c.10T>C ENSP00000398655.3:p.Phe4Leu
ENST00000517779.1:c.10T>C ENSP00000431054.1:p.Phe4Leu
ENST00000519402.5:n.145T>C
ENST00000520555.5:n.148T>C
ENST00000521769.5:c.-238+14841T>C ENSP00000430327.1:n.-238+14841T>C
ENST00000522616.1:n.151T>C
NM_005546.3:c.10T>C , LRG_189t1:c.10T>C NP_005537.3:p.Phe4Leu
NM_005546.4:c.10T>C MANE Select NP_005537.3:p.Phe4Leu
Search 100 bp 5'
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