Canonical Allele Identifier: CA806220358

Gene: ITK

Linked Data

• dbSNP Id: rs188498534
• gnomAD v3: 5-157241366-A-C
• gnomAD v4: 5-157241366-A-C
• MyVariant Identifiers: chr5:g.156668376A>C (hg19) ; chr5:g.157241366A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241366A>C , CM000667.2:g.157241366A>C	GRCh38
NC_000005.9:g.156668376A>C , CM000667.1:g.156668376A>C	GRCh37
NC_000005.8:g.156600954A>C	NCBI36
NG_016276.1:g.65470A>C , LRG_189:g.65470A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696962.1:c.852-280A>C	ENSP00000513001.1:n.852-280A>C
ENST00000422843.8:c.986-280A>C MANE Select	ENSP00000398655.4:n.986-280A>C
ENST00000422843.7:c.986-280A>C	ENSP00000398655.3:n.986-280A>C
ENST00000519402.5:n.2291A>C
ENST00000520173.1:n.104-280A>C
NM_005546.3:c.986-280A>C , LRG_189t1:c.986-280A>C	NP_005537.3:n.986-280A>C
XM_017009443.1:c.611-280A>C	XP_016864932.1:n.611-280A>C
NM_005546.4:c.986-280A>C MANE Select	NP_005537.3:n.986-280A>C