Canonical Allele Identifier: CA391731775

Gene: KNL1

Linked Data

• dbSNP Id: rs1256873706
• gnomAD v2: 15-40913909-A-C
• gnomAD v4: 15-40621711-A-C
• MyVariant Identifiers: chr15:g.40913909A>C (hg19) ; chr15:g.40621711A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40621711A>C , CM000677.2:g.40621711A>C	GRCh38
NC_000015.9:g.40913909A>C , CM000677.1:g.40913909A>C	GRCh37
NC_000015.8:g.38701201A>C	NCBI36
NG_033114.1:g.32463A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.1447A>C MANE Select	ENSP00000382576.3:p.Asn483His
ENST00000346991.9:c.1525A>C	ENSP00000335463.6:p.Asn509His
ENST00000399668.6:c.1447A>C	ENSP00000382576.2:p.Asn483His
ENST00000527044.5:c.1447A>C	ENSP00000432654.2:p.Asn483His
ENST00000533001.1:n.1592A>C
ENST00000534204.1:c.116-7613A>C	ENSP00000453857.1:n.116-7613A>C
ENST00000614337.4:n.1763A>C
NM_144508.4:c.1447A>C	NP_653091.3:p.Asn483His
NM_170589.4:c.1525A>C	NP_733468.3:p.Asn509His
XM_011521816.1:c.1123A>C	XP_011520118.1:p.Asn375His
XM_011521817.1:c.1447A>C	XP_011520119.1:p.Asn483His
XM_017022432.1:c.1123A>C	XP_016877921.1:p.Asn375His
NM_144508.5:c.1447A>C MANE Select	NP_653091.3:p.Asn483His
NM_170589.5:c.1525A>C	NP_733468.3:p.Asn509His