Canonical Allele Identifier: CA130157704

Gene: ITK

Linked Data

• dbSNP Id: rs991432874
• gnomAD v3: 5-157241333-C-A
• gnomAD v4: 5-157241333-C-A
• MyVariant Identifiers: chr5:g.156668343C>A (hg19) ; chr5:g.157241333C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241333C>A , CM000667.2:g.157241333C>A	GRCh38
NC_000005.9:g.156668343C>A , CM000667.1:g.156668343C>A	GRCh37
NC_000005.8:g.156600921C>A	NCBI36
NG_016276.1:g.65437C>A , LRG_189:g.65437C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696962.1:c.852-313C>A	ENSP00000513001.1:n.852-313C>A
ENST00000422843.8:c.986-313C>A MANE Select	ENSP00000398655.4:n.986-313C>A
ENST00000422843.7:c.986-313C>A	ENSP00000398655.3:n.986-313C>A
ENST00000519402.5:n.2258C>A
ENST00000520173.1:n.104-313C>A
NM_005546.3:c.986-313C>A , LRG_189t1:c.986-313C>A	NP_005537.3:n.986-313C>A
XM_017009443.1:c.611-313C>A	XP_016864932.1:n.611-313C>A
NM_005546.4:c.986-313C>A MANE Select	NP_005537.3:n.986-313C>A