Canonical Allele Identifier: CA399987239

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 566736
• ClinVar RCV Id: RCV000686627
• dbSNP Id: rs1291308469
• gnomAD v2: 17-44109610-A-G
• gnomAD v4: 17-46032244-A-G
• MyVariant Identifiers: chr17:g.44109610A>G (hg19) ; chr17:g.46032244A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032244A>G , CM000679.2:g.46032244A>G	GRCh38
NC_000017.10:g.44109610A>G , CM000679.1:g.44109610A>G	GRCh37
NC_000017.9:g.41465457A>G	NCBI36
NG_032784.1:g.198131T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2893T>C MANE Select	ENSP00000387393.3:p.Ser965Pro
ENST00000572904.6:c.2893T>C	ENSP00000461484.1:p.Ser965Pro
ENST00000574590.6:c.2890T>C	ENSP00000461812.2:p.Ser964Pro
ENST00000575318.6:c.2701T>C	ENSP00000461299.1:p.Ser901Pro
ENST00000638275.1:c.2701T>C	ENSP00000492576.1:p.Ser901Pro
ENST00000638291.1:n.721T>C
ENST00000638551.1:n.841T>C
ENST00000639467.1:c.550T>C	ENSP00000492741.1:p.Ser184Pro
ENST00000639805.1:n.310T>C
ENST00000648792.1:c.2838-77T>C	ENSP00000497628.1:n.2838-77T>C
ENST00000262419.10:c.2893T>C	ENSP00000262419.6:p.Ser965Pro
ENST00000432791.5:c.2890T>C	ENSP00000387393.2:p.Ser964Pro
ENST00000572218.5:n.7110T>C
ENST00000572904.5:c.2893T>C	ENSP00000461484.1:p.Ser965Pro
ENST00000573682.1:n.279T>C
ENST00000574590.5:c.2893T>C	ENSP00000461812.1:p.Ser965Pro
ENST00000574963.1:n.323T>C
ENST00000575318.5:c.2701T>C	ENSP00000461299.1:p.Ser901Pro
ENST00000576870.5:n.865T>C
NM_001193465.1:c.2890T>C	NP_001180394.1:p.Ser964Pro
NM_001193466.1:c.2893T>C	NP_001180395.1:p.Ser965Pro
NM_015443.3:c.2893T>C	NP_056258.1:p.Ser965Pro
XM_006721823.1:c.2893T>C	XP_006721886.1:p.Ser965Pro
XM_006721824.2:c.2893T>C	XP_006721887.1:p.Ser965Pro
XM_011524628.1:c.2890T>C	XP_011522930.1:p.Ser964Pro
XM_011524629.1:c.2791T>C	XP_011522931.1:p.Ser931Pro
XM_011524630.1:c.2704T>C	XP_011522932.1:p.Ser902Pro
XM_011524631.1:c.2701T>C	XP_011522933.1:p.Ser901Pro
XM_011524632.1:c.1663T>C	XP_011522934.1:p.Ser555Pro
XM_006721823.2:c.2893T>C	XP_006721886.1:p.Ser965Pro
XM_006721824.4:c.2893T>C	XP_006721887.1:p.Ser965Pro
XM_011524628.3:c.2890T>C	XP_011522930.1:p.Ser964Pro
XM_011524629.3:c.2791T>C	XP_011522931.1:p.Ser931Pro
XM_011524630.3:c.2704T>C	XP_011522932.1:p.Ser902Pro
XM_011524631.3:c.2701T>C	XP_011522933.1:p.Ser901Pro
XM_011524632.3:c.1663T>C	XP_011522934.1:p.Ser555Pro
XM_017024488.2:c.2701T>C	XP_016879977.1:p.Ser901Pro
NM_001193466.2:c.2893T>C	NP_001180395.1:p.Ser965Pro
NM_015443.4:c.2893T>C MANE Select	NP_056258.1:p.Ser965Pro
NM_001193465.2:c.2890T>C	NP_001180394.1:p.Ser964Pro
NM_001379198.1:c.2893T>C	NP_001366127.1:p.Ser965Pro