Canonical Allele Identifier: CA130157695

Gene: ITK

Linked Data

• dbSNP Id: rs374809331
• gnomAD v4: 5-157241308-C-T
• MyVariant Identifiers: chr5:g.156668318C>T (hg19) ; chr5:g.157241308C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241308C>T , CM000667.2:g.157241308C>T	GRCh38
NC_000005.9:g.156668318C>T , CM000667.1:g.156668318C>T	GRCh37
NC_000005.8:g.156600896C>T	NCBI36
NG_016276.1:g.65412C>T , LRG_189:g.65412C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696962.1:c.852-338C>T	ENSP00000513001.1:n.852-338C>T
ENST00000422843.8:c.986-338C>T MANE Select	ENSP00000398655.4:n.986-338C>T
ENST00000422843.7:c.986-338C>T	ENSP00000398655.3:n.986-338C>T
ENST00000519402.5:n.2233C>T
ENST00000520173.1:n.104-338C>T
NM_005546.3:c.986-338C>T , LRG_189t1:c.986-338C>T	NP_005537.3:n.986-338C>T
XM_017009443.1:c.611-338C>T	XP_016864932.1:n.611-338C>T
NM_005546.4:c.986-338C>T MANE Select	NP_005537.3:n.986-338C>T