Canonical Allele Identifier: CA391731889

Gene: KNL1

Linked Data

• gnomAD v4: 15-40621732-C-A
• MyVariant Identifiers: chr15:g.40913930C>A (hg19) ; chr15:g.40621732C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621732C>A , CM000677.2:g.40621732C>A	GRCh38
NC_000015.9:g.40913930C>A , CM000677.1:g.40913930C>A	GRCh37
NC_000015.8:g.38701222C>A	NCBI36
NG_033114.1:g.32484C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.1468C>A MANE Select	ENSP00000382576.3:p.His490Asn
ENST00000346991.9:c.1546C>A	ENSP00000335463.6:p.His516Asn
ENST00000399668.6:c.1468C>A	ENSP00000382576.2:p.His490Asn
ENST00000527044.5:c.1468C>A	ENSP00000432654.2:p.His490Asn
ENST00000533001.1:n.1613C>A
ENST00000534204.1:c.116-7592C>A	ENSP00000453857.1:n.116-7592C>A
ENST00000614337.4:n.1784C>A
NM_144508.4:c.1468C>A	NP_653091.3:p.His490Asn
NM_170589.4:c.1546C>A	NP_733468.3:p.His516Asn
XM_011521816.1:c.1144C>A	XP_011520118.1:p.His382Asn
XM_011521817.1:c.1468C>A	XP_011520119.1:p.His490Asn
XM_017022432.1:c.1144C>A	XP_016877921.1:p.His382Asn
NM_144508.5:c.1468C>A MANE Select	NP_653091.3:p.His490Asn
NM_170589.5:c.1546C>A	NP_733468.3:p.His516Asn