Canonical Allele Identifier: CA7482681

Gene: KNL1

Linked Data

• ClinVar Variation Id: 886514
• ClinVar RCV Id: RCV001118746
• dbSNP Id: rs748514171
• ExAC: 15:40913971 A / G
• gnomAD v2: 15-40913971-A-G
• gnomAD v3: 15-40621773-A-G
• gnomAD v4: 15-40621773-A-G
• MyVariant Identifiers: chr15:g.40913971A>G (hg19) ; chr15:g.40621773A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621773A>G , CM000677.2:g.40621773A>G	GRCh38
NC_000015.9:g.40913971A>G , CM000677.1:g.40913971A>G	GRCh37
NC_000015.8:g.38701263A>G	NCBI36
NG_033114.1:g.32525A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.1509A>G MANE Select	ENSP00000382576.3:p.Gln503=
ENST00000346991.9:c.1587A>G	ENSP00000335463.6:p.Gln529=
ENST00000399668.6:c.1509A>G	ENSP00000382576.2:p.Gln503=
ENST00000527044.5:c.1509A>G	ENSP00000432654.2:p.Gln503=
ENST00000533001.1:n.1654A>G
ENST00000534204.1:c.116-7551A>G	ENSP00000453857.1:n.116-7551A>G
ENST00000614337.4:n.1825A>G
NM_144508.4:c.1509A>G	NP_653091.3:p.Gln503=
NM_170589.4:c.1587A>G	NP_733468.3:p.Gln529=
XM_011521816.1:c.1185A>G	XP_011520118.1:p.Gln395=
XM_011521817.1:c.1509A>G	XP_011520119.1:p.Gln503=
XM_017022432.1:c.1185A>G	XP_016877921.1:p.Gln395=
NM_144508.5:c.1509A>G MANE Select	NP_653091.3:p.Gln503=
NM_170589.5:c.1587A>G	NP_733468.3:p.Gln529=