Canonical Allele Identifier: CA399987662

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 2815266
• ClinVar RCV Id: RCV003643729
• dbSNP Id: rs1300080423
• gnomAD v3: 17-46067622-T-C
• gnomAD v4: 17-46067622-T-C
• MyVariant Identifiers: chr17:g.46067622T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46067622T>C , CM000679.2:g.46067622T>C	GRCh38
NC_000017.9:g.41500810T>C	NCBI36
NG_032784.1:g.162753A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.1579A>G MANE Select	ENSP00000387393.3:p.Ile527Val
ENST00000571698.2:c.1579A>G	ENSP00000459330.2:p.Ile527Val
ENST00000572904.6:c.1579A>G	ENSP00000461484.1:p.Ile527Val
ENST00000574590.6:c.1579A>G	ENSP00000461812.2:p.Ile527Val
ENST00000575318.6:c.1579A>G	ENSP00000461299.1:p.Ile527Val
ENST00000577114.2:n.305A>G
ENST00000638275.1:c.1579A>G	ENSP00000492576.1:p.Ile527Val
ENST00000639150.1:c.313A>G	ENSP00000491906.1:p.Ile105Val
ENST00000639375.1:n.1817A>G
ENST00000639531.1:c.1579A>G	ENSP00000491765.1:p.Ile527Val
ENST00000639853.1:c.750A>G
ENST00000648792.1:c.1579A>G	ENSP00000497628.1:p.Ile527Val
ENST00000262419.10:c.1579A>G	ENSP00000262419.6:p.Ile527Val
ENST00000432791.5:c.1579A>G	ENSP00000387393.2:p.Ile527Val
ENST00000572904.5:c.1579A>G	ENSP00000461484.1:p.Ile527Val
ENST00000574590.5:c.1579A>G	ENSP00000461812.1:p.Ile527Val
ENST00000575318.5:c.1579A>G	ENSP00000461299.1:p.Ile527Val
ENST00000577114.1:n.376A>G
NM_001193465.1:c.1579A>G	NP_001180394.1:p.Ile527Val
NM_001193466.1:c.1579A>G	NP_001180395.1:p.Ile527Val
NM_015443.3:c.1579A>G	NP_056258.1:p.Ile527Val
XM_006721823.1:c.1579A>G	XP_006721886.1:p.Ile527Val
XM_006721824.2:c.1579A>G	XP_006721887.1:p.Ile527Val
XM_011524628.1:c.1579A>G	XP_011522930.1:p.Ile527Val
XM_011524629.1:c.1477A>G	XP_011522931.1:p.Ile493Val
XM_011524630.1:c.1579A>G	XP_011522932.1:p.Ile527Val
XM_011524631.1:c.1579A>G	XP_011522933.1:p.Ile527Val
XM_011524632.1:c.349A>G	XP_011522934.1:p.Ile117Val
XM_006721823.2:c.1579A>G	XP_006721886.1:p.Ile527Val
XM_006721824.4:c.1579A>G	XP_006721887.1:p.Ile527Val
XM_011524628.3:c.1579A>G	XP_011522930.1:p.Ile527Val
XM_011524629.3:c.1477A>G	XP_011522931.1:p.Ile493Val
XM_011524630.3:c.1579A>G	XP_011522932.1:p.Ile527Val
XM_011524631.3:c.1579A>G	XP_011522933.1:p.Ile527Val
XM_011524632.3:c.349A>G	XP_011522934.1:p.Ile117Val
XM_017024488.2:c.1579A>G	XP_016879977.1:p.Ile527Val
XM_017024489.1:c.1477A>G	XP_016879978.1:p.Ile493Val
NM_001193466.2:c.1579A>G	NP_001180395.1:p.Ile527Val
NM_015443.4:c.1579A>G MANE Select	NP_056258.1:p.Ile527Val
NM_001193465.2:c.1579A>G	NP_001180394.1:p.Ile527Val
NM_001379198.1:c.1579A>G	NP_001366127.1:p.Ile527Val