Canonical Allele Identifier: CA8618422
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 536298
ClinVar RCV Id: RCV000644674
dbSNP Id: rs763252158

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46032240G>A , CM000679.2:g.46032240G>A GRCh38
NC_000017.10:g.44109606G>A , CM000679.1:g.44109606G>A GRCh37
NC_000017.9:g.41465453G>A NCBI36
NG_032784.1:g.198135C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000432791.7:c.2897C>T MANE Select ENSP00000387393.3:p.Thr966Ile
ENST00000572904.6:c.2897C>T ENSP00000461484.1:p.Thr966Ile
ENST00000574590.6:c.2894C>T ENSP00000461812.2:p.Thr965Ile
ENST00000575318.6:c.2705C>T ENSP00000461299.1:p.Thr902Ile
ENST00000638275.1:c.2705C>T ENSP00000492576.1:p.Thr902Ile
ENST00000638291.1:n.725C>T
ENST00000638551.1:n.845C>T
ENST00000639467.1:c.554C>T ENSP00000492741.1:p.Thr185Ile
ENST00000639805.1:n.314C>T
ENST00000648792.1:c.2838-73C>T ENSP00000497628.1:n.2838-73C>T
ENST00000262419.10:c.2897C>T ENSP00000262419.6:p.Thr966Ile
ENST00000432791.5:c.2894C>T ENSP00000387393.2:p.Thr965Ile
ENST00000572218.5:n.7114C>T
ENST00000572904.5:c.2897C>T ENSP00000461484.1:p.Thr966Ile
ENST00000573682.1:n.283C>T
ENST00000574590.5:c.2897C>T ENSP00000461812.1:p.Thr966Ile
ENST00000574963.1:n.327C>T
ENST00000575318.5:c.2705C>T ENSP00000461299.1:p.Thr902Ile
ENST00000576870.5:n.869C>T
NM_001193465.1:c.2894C>T NP_001180394.1:p.Thr965Ile
NM_001193466.1:c.2897C>T NP_001180395.1:p.Thr966Ile
NM_015443.3:c.2897C>T NP_056258.1:p.Thr966Ile
XM_006721823.1:c.2897C>T XP_006721886.1:p.Thr966Ile
XM_006721824.2:c.2897C>T XP_006721887.1:p.Thr966Ile
XM_011524628.1:c.2894C>T XP_011522930.1:p.Thr965Ile
XM_011524629.1:c.2795C>T XP_011522931.1:p.Thr932Ile
XM_011524630.1:c.2708C>T XP_011522932.1:p.Thr903Ile
XM_011524631.1:c.2705C>T XP_011522933.1:p.Thr902Ile
XM_011524632.1:c.1667C>T XP_011522934.1:p.Thr556Ile
XM_006721823.2:c.2897C>T XP_006721886.1:p.Thr966Ile
XM_006721824.4:c.2897C>T XP_006721887.1:p.Thr966Ile
XM_011524628.3:c.2894C>T XP_011522930.1:p.Thr965Ile
XM_011524629.3:c.2795C>T XP_011522931.1:p.Thr932Ile
XM_011524630.3:c.2708C>T XP_011522932.1:p.Thr903Ile
XM_011524631.3:c.2705C>T XP_011522933.1:p.Thr902Ile
XM_011524632.3:c.1667C>T XP_011522934.1:p.Thr556Ile
XM_017024488.2:c.2705C>T XP_016879977.1:p.Thr902Ile
NM_001193466.2:c.2897C>T NP_001180395.1:p.Thr966Ile
NM_015443.4:c.2897C>T MANE Select NP_056258.1:p.Thr966Ile
NM_001193465.2:c.2894C>T NP_001180394.1:p.Thr965Ile
NM_001379198.1:c.2897C>T NP_001366127.1:p.Thr966Ile