Canonical Allele Identifier: CA16607697
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 380547
dbSNP Id: rs371108710

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46039799C>G , CM000679.2:g.46039799C>G GRCh38
NC_000017.10:g.44117165C>G , CM000679.1:g.44117165C>G GRCh37
NC_000017.9:g.41473012C>G NCBI36
NG_032784.1:g.190576G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432791.7:c.2106G>C MANE Select ENSP00000387393.3:p.Lys702Asn
ENST00000572904.6:c.2106G>C ENSP00000461484.1:p.Lys702Asn
ENST00000573286.2:n.3303G>C
ENST00000574590.6:c.2106G>C ENSP00000461812.2:p.Lys702Asn
ENST00000575318.6:c.2106G>C ENSP00000461299.1:p.Lys702Asn
ENST00000638275.1:c.2106G>C ENSP00000492576.1:p.Lys702Asn
ENST00000639150.1:c.840G>C ENSP00000491906.1:p.Lys280Asn
ENST00000639531.1:c.2106G>C ENSP00000491765.1:p.Lys702Asn
ENST00000639853.1:c.1277G>C
ENST00000640636.1:c.248G>C
ENST00000648792.1:c.2106G>C ENSP00000497628.1:p.Lys702Asn
ENST00000262419.10:c.2106G>C ENSP00000262419.6:p.Lys702Asn
ENST00000432791.5:c.2106G>C ENSP00000387393.2:p.Lys702Asn
ENST00000572218.5:n.6323G>C
ENST00000572904.5:c.2106G>C ENSP00000461484.1:p.Lys702Asn
ENST00000574590.5:c.2106G>C ENSP00000461812.1:p.Lys702Asn
ENST00000575318.5:c.2106G>C ENSP00000461299.1:p.Lys702Asn
ENST00000576870.5:n.267G>C
NM_001193465.1:c.2106G>C NP_001180394.1:p.Lys702Asn
NM_001193466.1:c.2106G>C NP_001180395.1:p.Lys702Asn
NM_015443.3:c.2106G>C NP_056258.1:p.Lys702Asn
XM_006721823.1:c.2106G>C XP_006721886.1:p.Lys702Asn
XM_006721824.2:c.2106G>C XP_006721887.1:p.Lys702Asn
XM_011524628.1:c.2106G>C XP_011522930.1:p.Lys702Asn
XM_011524629.1:c.2004G>C XP_011522931.1:p.Lys668Asn
XM_011524630.1:c.2106G>C XP_011522932.1:p.Lys702Asn
XM_011524631.1:c.2106G>C XP_011522933.1:p.Lys702Asn
XM_011524632.1:c.876G>C XP_011522934.1:p.Lys292Asn
XM_006721823.2:c.2106G>C XP_006721886.1:p.Lys702Asn
XM_006721824.4:c.2106G>C XP_006721887.1:p.Lys702Asn
XM_011524628.3:c.2106G>C XP_011522930.1:p.Lys702Asn
XM_011524629.3:c.2004G>C XP_011522931.1:p.Lys668Asn
XM_011524630.3:c.2106G>C XP_011522932.1:p.Lys702Asn
XM_011524631.3:c.2106G>C XP_011522933.1:p.Lys702Asn
XM_011524632.3:c.876G>C XP_011522934.1:p.Lys292Asn
XM_017024488.2:c.2106G>C XP_016879977.1:p.Lys702Asn
XM_017024489.1:c.2004G>C XP_016879978.1:p.Lys668Asn
NM_001193466.2:c.2106G>C NP_001180395.1:p.Lys702Asn
NM_015443.4:c.2106G>C MANE Select NP_056258.1:p.Lys702Asn
NM_001193465.2:c.2106G>C NP_001180394.1:p.Lys702Asn
NM_001379198.1:c.2106G>C NP_001366127.1:p.Lys702Asn