Canonical Allele Identifier: CA7483389

Gene: KNL1

Linked Data

• ClinVar Variation Id: 315868
• ClinVar RCV Id: RCV000357077 ; RCV000914131
• dbSNP Id: rs200029926
• ExAC: 15:40920324 A / T
• gnomAD v2: 15-40920324-A-T
• gnomAD v3: 15-40628126-A-T
• gnomAD v4: 15-40628126-A-T
• MyVariant Identifiers: chr15:g.40920324A>T (hg19) ; chr15:g.40628126A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40628126A>T , CM000677.2:g.40628126A>T	GRCh38
NC_000015.9:g.40920324A>T , CM000677.1:g.40920324A>T	GRCh37
NC_000015.8:g.38707616A>T	NCBI36
NG_033114.1:g.38878A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.5433A>T MANE Select	ENSP00000382576.3:p.Ile1811=
ENST00000346991.9:c.5511A>T	ENSP00000335463.6:p.Ile1837=
ENST00000399668.6:c.5433A>T	ENSP00000382576.2:p.Ile1811=
ENST00000526913.5:c.2566A>T
ENST00000532406.1:c.53A>T
ENST00000534204.1:c.116-1198A>T	ENSP00000453857.1:n.116-1198A>T
NM_144508.4:c.5433A>T	NP_653091.3:p.Ile1811=
NM_170589.4:c.5511A>T	NP_733468.3:p.Ile1837=
XM_011521816.1:c.5109A>T	XP_011520118.1:p.Ile1703=
XM_011521817.1:c.5433A>T	XP_011520119.1:p.Ile1811=
XM_017022432.1:c.5109A>T	XP_016877921.1:p.Ile1703=
NM_144508.5:c.5433A>T MANE Select	NP_653091.3:p.Ile1811=
NM_170589.5:c.5511A>T	NP_733468.3:p.Ile1837=