Canonical Allele Identifier: CA399980250

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 511876
• ClinVar RCV Id: RCV000615838
• dbSNP Id: rs1457193430
• gnomAD v2: 17-44115952-A-C
• gnomAD v4: 17-46038586-A-C
• MyVariant Identifiers: chr17:g.44115952A>C (hg19) ; chr17:g.46038586A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038586A>C , CM000679.2:g.46038586A>C	GRCh38
NC_000017.10:g.44115952A>C , CM000679.1:g.44115952A>C	GRCh37
NC_000017.9:g.41471799A>C	NCBI36
NG_032784.1:g.191789T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2493T>G MANE Select	ENSP00000387393.3:p.Asp831Glu
ENST00000572904.6:c.2493T>G	ENSP00000461484.1:p.Asp831Glu
ENST00000573286.2:n.4176T>G
ENST00000574590.6:c.2493T>G	ENSP00000461812.2:p.Asp831Glu
ENST00000575318.6:c.2304T>G	ENSP00000461299.1:p.Asp768Glu
ENST00000576137.2:n.490T>G
ENST00000638275.1:c.2304T>G	ENSP00000492576.1:p.Asp768Glu
ENST00000639150.1:c.1227T>G	ENSP00000491906.1:p.Asp409Glu
ENST00000639467.1:c.156T>G	ENSP00000492741.1:p.Asp52Glu
ENST00000639531.1:c.2304T>G	ENSP00000491765.1:p.Asp768Glu
ENST00000640636.1:c.446T>G
ENST00000648792.1:c.2493T>G	ENSP00000497628.1:p.Asp831Glu
ENST00000262419.10:c.2493T>G	ENSP00000262419.6:p.Asp831Glu
ENST00000432791.5:c.2493T>G	ENSP00000387393.2:p.Asp831Glu
ENST00000572218.5:n.6710T>G
ENST00000572904.5:c.2493T>G	ENSP00000461484.1:p.Asp831Glu
ENST00000573286.1:n.349T>G
ENST00000574590.5:c.2493T>G	ENSP00000461812.1:p.Asp831Glu
ENST00000575318.5:c.2304T>G	ENSP00000461299.1:p.Asp768Glu
ENST00000576137.1:n.132T>G
ENST00000576870.5:n.465T>G
NM_001193465.1:c.2493T>G	NP_001180394.1:p.Asp831Glu
NM_001193466.1:c.2493T>G	NP_001180395.1:p.Asp831Glu
NM_015443.3:c.2493T>G	NP_056258.1:p.Asp831Glu
XM_006721823.1:c.2493T>G	XP_006721886.1:p.Asp831Glu
XM_006721824.2:c.2493T>G	XP_006721887.1:p.Asp831Glu
XM_011524628.1:c.2493T>G	XP_011522930.1:p.Asp831Glu
XM_011524629.1:c.2391T>G	XP_011522931.1:p.Asp797Glu
XM_011524630.1:c.2304T>G	XP_011522932.1:p.Asp768Glu
XM_011524631.1:c.2304T>G	XP_011522933.1:p.Asp768Glu
XM_011524632.1:c.1263T>G	XP_011522934.1:p.Asp421Glu
XM_006721823.2:c.2493T>G	XP_006721886.1:p.Asp831Glu
XM_006721824.4:c.2493T>G	XP_006721887.1:p.Asp831Glu
XM_011524628.3:c.2493T>G	XP_011522930.1:p.Asp831Glu
XM_011524629.3:c.2391T>G	XP_011522931.1:p.Asp797Glu
XM_011524630.3:c.2304T>G	XP_011522932.1:p.Asp768Glu
XM_011524631.3:c.2304T>G	XP_011522933.1:p.Asp768Glu
XM_011524632.3:c.1263T>G	XP_011522934.1:p.Asp421Glu
XM_017024488.2:c.2304T>G	XP_016879977.1:p.Asp768Glu
XM_017024489.1:c.2391T>G	XP_016879978.1:p.Asp797Glu
NM_001193466.2:c.2493T>G	NP_001180395.1:p.Asp831Glu
NM_015443.4:c.2493T>G MANE Select	NP_056258.1:p.Asp831Glu
NM_001193465.2:c.2493T>G	NP_001180394.1:p.Asp831Glu
NM_001379198.1:c.2493T>G	NP_001366127.1:p.Asp831Glu