Canonical Allele Identifier: CA8618624
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444406
dbSNP Id: rs752047149

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46039194C>T , CM000679.2:g.46039194C>T GRCh38
NC_000017.10:g.44116560C>T , CM000679.1:g.44116560C>T GRCh37
NC_000017.9:g.41472407C>T NCBI36
NG_032784.1:g.191181G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432791.7:c.2225G>A MANE Select ENSP00000387393.3:p.Arg742Gln
ENST00000572904.6:c.2225G>A ENSP00000461484.1:p.Arg742Gln
ENST00000573286.2:n.3908G>A
ENST00000574590.6:c.2225G>A ENSP00000461812.2:p.Arg742Gln
ENST00000575318.6:c.2204-508G>A ENSP00000461299.1:n.2204-508G>A
ENST00000638275.1:c.2204-508G>A ENSP00000492576.1:n.2204-508G>A
ENST00000639150.1:c.959G>A ENSP00000491906.1:p.Arg320Gln
ENST00000639531.1:c.2204-508G>A ENSP00000491765.1:n.2204-508G>A
ENST00000639853.1:c.1375-508G>A
ENST00000640636.1:c.346-508G>A
ENST00000648792.1:c.2225G>A ENSP00000497628.1:p.Arg742Gln
ENST00000262419.10:c.2225G>A ENSP00000262419.6:p.Arg742Gln
ENST00000432791.5:c.2225G>A ENSP00000387393.2:p.Arg742Gln
ENST00000572218.5:n.6442G>A
ENST00000572679.1:n.357G>A
ENST00000572904.5:c.2225G>A ENSP00000461484.1:p.Arg742Gln
ENST00000573286.1:n.81G>A
ENST00000574590.5:c.2225G>A ENSP00000461812.1:p.Arg742Gln
ENST00000575318.5:c.2204-508G>A ENSP00000461299.1:n.2204-508G>A
ENST00000576870.5:n.365-508G>A
NM_001193465.1:c.2225G>A NP_001180394.1:p.Arg742Gln
NM_001193466.1:c.2225G>A NP_001180395.1:p.Arg742Gln
NM_015443.3:c.2225G>A NP_056258.1:p.Arg742Gln
XM_006721823.1:c.2225G>A XP_006721886.1:p.Arg742Gln
XM_006721824.2:c.2225G>A XP_006721887.1:p.Arg742Gln
XM_011524628.1:c.2225G>A XP_011522930.1:p.Arg742Gln
XM_011524629.1:c.2123G>A XP_011522931.1:p.Arg708Gln
XM_011524630.1:c.2204-508G>A XP_011522932.1:n.2204-508G>A
XM_011524631.1:c.2204-508G>A XP_011522933.1:n.2204-508G>A
XM_011524632.1:c.995G>A XP_011522934.1:p.Arg332Gln
XM_006721823.2:c.2225G>A XP_006721886.1:p.Arg742Gln
XM_006721824.4:c.2225G>A XP_006721887.1:p.Arg742Gln
XM_011524628.3:c.2225G>A XP_011522930.1:p.Arg742Gln
XM_011524629.3:c.2123G>A XP_011522931.1:p.Arg708Gln
XM_011524630.3:c.2204-508G>A XP_011522932.1:n.2204-508G>A
XM_011524631.3:c.2204-508G>A XP_011522933.1:n.2204-508G>A
XM_011524632.3:c.995G>A XP_011522934.1:p.Arg332Gln
XM_017024488.2:c.2204-508G>A XP_016879977.1:n.2204-508G>A
XM_017024489.1:c.2123G>A XP_016879978.1:p.Arg708Gln
NM_001193466.2:c.2225G>A NP_001180395.1:p.Arg742Gln
NM_015443.4:c.2225G>A MANE Select NP_056258.1:p.Arg742Gln
NM_001193465.2:c.2225G>A NP_001180394.1:p.Arg742Gln
NM_001379198.1:c.2225G>A NP_001366127.1:p.Arg742Gln