Canonical Allele Identifier: CA7483671

Gene: KNL1

Linked Data

• dbSNP Id: rs376586857
• ExAC: 15:40943765 G / C
• gnomAD v2: 15-40943765-G-C
• gnomAD v3: 15-40651567-G-C
• gnomAD v4: 15-40651567-G-C
• MyVariant Identifiers: chr15:g.40943765G>C (hg19) ; chr15:g.40651567G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40651567G>C , CM000677.2:g.40651567G>C	GRCh38
NC_000015.9:g.40943765G>C , CM000677.1:g.40943765G>C	GRCh37
NC_000015.8:g.38731057G>C	NCBI36
NG_033114.1:g.62319G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399668.7:c.6309G>C MANE Select	ENSP00000382576.3:p.Gln2103His
ENST00000346991.9:c.6387G>C	ENSP00000335463.6:p.Gln2129His
ENST00000399668.6:c.6309G>C	ENSP00000382576.2:p.Gln2103His
ENST00000526913.5:c.3442G>C
ENST00000532347.1:n.389G>C
NM_144508.4:c.6309G>C	NP_653091.3:p.Gln2103His
NM_170589.4:c.6387G>C	NP_733468.3:p.Gln2129His
XM_011521816.1:c.5985G>C	XP_011520118.1:p.Gln1995His
XM_011521817.1:c.6309G>C	XP_011520119.1:p.Gln2103His
XM_017022432.1:c.5985G>C	XP_016877921.1:p.Gln1995His
NM_144508.5:c.6309G>C MANE Select	NP_653091.3:p.Gln2103His
NM_170589.5:c.6387G>C	NP_733468.3:p.Gln2129His