Canonical Allele Identifier: CA7483657
Gene: KNL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 884748
ClinVar RCV Id: RCV001115957
dbSNP Id: rs778618588
ExAC: 15:40943671 A / G
gnomAD v2: 15-40943671-A-G
gnomAD v3: 15-40651473-A-G
gnomAD v4: 15-40651473-A-G
MyVariant Identifiers: chr15:g.40943671A>G (hg19) chr15:g.40651473A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40651473A>G , CM000677.2:g.40651473A>G GRCh38
NC_000015.9:g.40943671A>G , CM000677.1:g.40943671A>G GRCh37
NC_000015.8:g.38730963A>G NCBI36
NG_033114.1:g.62225A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399668.7:c.6215A>G MANE Select ENSP00000382576.3:p.Asn2072Ser
ENST00000346991.9:c.6293A>G ENSP00000335463.6:p.Asn2098Ser
ENST00000399668.6:c.6215A>G ENSP00000382576.2:p.Asn2072Ser
ENST00000526913.5:c.3348A>G
ENST00000532347.1:n.295A>G
NM_144508.4:c.6215A>G NP_653091.3:p.Asn2072Ser
NM_170589.4:c.6293A>G NP_733468.3:p.Asn2098Ser
XM_011521816.1:c.5891A>G XP_011520118.1:p.Asn1964Ser
XM_011521817.1:c.6215A>G XP_011520119.1:p.Asn2072Ser
XM_017022432.1:c.5891A>G XP_016877921.1:p.Asn1964Ser
NM_144508.5:c.6215A>G MANE Select NP_653091.3:p.Asn2072Ser
NM_170589.5:c.6293A>G NP_733468.3:p.Asn2098Ser
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