Canonical Allele Identifier: CA399980190

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 508468
• ClinVar RCV Id: RCV000601324 ; RCV000694068
• dbSNP Id: rs1555733519
• gnomAD v4: 17-46038576-G-A
• MyVariant Identifiers: chr17:g.44115942G>A (hg19) ; chr17:g.46038576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038576G>A , CM000679.2:g.46038576G>A	GRCh38
NC_000017.10:g.44115942G>A , CM000679.1:g.44115942G>A	GRCh37
NC_000017.9:g.41471789G>A	NCBI36
NG_032784.1:g.191799C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2503C>T MANE Select	ENSP00000387393.3:p.Pro835Ser
ENST00000572904.6:c.2503C>T	ENSP00000461484.1:p.Pro835Ser
ENST00000573286.2:n.4186C>T
ENST00000574590.6:c.2503C>T	ENSP00000461812.2:p.Pro835Ser
ENST00000575318.6:c.2314C>T	ENSP00000461299.1:p.Pro772Ser
ENST00000576137.2:n.500C>T
ENST00000638275.1:c.2314C>T	ENSP00000492576.1:p.Pro772Ser
ENST00000639150.1:c.1237C>T	ENSP00000491906.1:p.Pro413Ser
ENST00000639467.1:c.166C>T	ENSP00000492741.1:p.Pro56Ser
ENST00000639531.1:c.2314C>T	ENSP00000491765.1:p.Pro772Ser
ENST00000640636.1:c.456C>T
ENST00000648792.1:c.2503C>T	ENSP00000497628.1:p.Pro835Ser
ENST00000262419.10:c.2503C>T	ENSP00000262419.6:p.Pro835Ser
ENST00000432791.5:c.2503C>T	ENSP00000387393.2:p.Pro835Ser
ENST00000572218.5:n.6720C>T
ENST00000572904.5:c.2503C>T	ENSP00000461484.1:p.Pro835Ser
ENST00000573286.1:n.359C>T
ENST00000574590.5:c.2503C>T	ENSP00000461812.1:p.Pro835Ser
ENST00000575318.5:c.2314C>T	ENSP00000461299.1:p.Pro772Ser
ENST00000576137.1:n.142C>T
ENST00000576870.5:n.475C>T
NM_001193465.1:c.2503C>T	NP_001180394.1:p.Pro835Ser
NM_001193466.1:c.2503C>T	NP_001180395.1:p.Pro835Ser
NM_015443.3:c.2503C>T	NP_056258.1:p.Pro835Ser
XM_006721823.1:c.2503C>T	XP_006721886.1:p.Pro835Ser
XM_006721824.2:c.2503C>T	XP_006721887.1:p.Pro835Ser
XM_011524628.1:c.2503C>T	XP_011522930.1:p.Pro835Ser
XM_011524629.1:c.2401C>T	XP_011522931.1:p.Pro801Ser
XM_011524630.1:c.2314C>T	XP_011522932.1:p.Pro772Ser
XM_011524631.1:c.2314C>T	XP_011522933.1:p.Pro772Ser
XM_011524632.1:c.1273C>T	XP_011522934.1:p.Pro425Ser
XM_006721823.2:c.2503C>T	XP_006721886.1:p.Pro835Ser
XM_006721824.4:c.2503C>T	XP_006721887.1:p.Pro835Ser
XM_011524628.3:c.2503C>T	XP_011522930.1:p.Pro835Ser
XM_011524629.3:c.2401C>T	XP_011522931.1:p.Pro801Ser
XM_011524630.3:c.2314C>T	XP_011522932.1:p.Pro772Ser
XM_011524631.3:c.2314C>T	XP_011522933.1:p.Pro772Ser
XM_011524632.3:c.1273C>T	XP_011522934.1:p.Pro425Ser
XM_017024488.2:c.2314C>T	XP_016879977.1:p.Pro772Ser
XM_017024489.1:c.2401C>T	XP_016879978.1:p.Pro801Ser
NM_001193466.2:c.2503C>T	NP_001180395.1:p.Pro835Ser
NM_015443.4:c.2503C>T MANE Select	NP_056258.1:p.Pro835Ser
NM_001193465.2:c.2503C>T	NP_001180394.1:p.Pro835Ser
NM_001379198.1:c.2503C>T	NP_001366127.1:p.Pro835Ser