Canonical Allele Identifier: CA361958945
Gene: ITK HGNC NCBI

Linked Data

ClinVar Variation Id: 2469289
ClinVar RCV Id: RCV003207504
dbSNP Id: rs1398830172
gnomAD v4: 5-157241679-T-C
MyVariant Identifiers: chr5:g.156668689T>C (hg19) chr5:g.157241679T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157241679T>C , CM000667.2:g.157241679T>C GRCh38
NC_000005.9:g.156668689T>C , CM000667.1:g.156668689T>C GRCh37
NC_000005.8:g.156601267T>C NCBI36
NG_016276.1:g.65783T>C , LRG_189:g.65783T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.885T>C ENSP00000513001.1:p.Phe295=
ENST00000422843.8:c.1019T>C MANE Select ENSP00000398655.4:p.Phe340Ser
ENST00000422843.7:c.1019T>C ENSP00000398655.3:p.Phe340Ser
ENST00000519402.5:n.2604T>C
ENST00000519749.1:n.89T>C
ENST00000520173.1:n.137T>C
NM_005546.3:c.1019T>C , LRG_189t1:c.1019T>C NP_005537.3:p.Phe340Ser
XM_017009443.1:c.644T>C XP_016864932.1:p.Phe215Ser
NM_005546.4:c.1019T>C MANE Select NP_005537.3:p.Phe340Ser
Search 100 bp 5'
Search 100 bp 3'