Canonical Allele Identifier: CA291703

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 137968
• ClinVar RCV Id: RCV000126397 ; RCV000527745 ; RCV001725990
• dbSNP Id: rs143653891
• ExAC: 17:44115964 G / A
• gnomAD v2: 17-44115964-G-A
• gnomAD v3: 17-46038598-G-A
• gnomAD v4: 17-46038598-G-A
• MyVariant Identifiers: chr17:g.44115964G>A (hg19) ; chr17:g.46038598G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038598G>A , CM000679.2:g.46038598G>A	GRCh38
NC_000017.10:g.44115964G>A , CM000679.1:g.44115964G>A	GRCh37
NC_000017.9:g.41471811G>A	NCBI36
NG_032784.1:g.191777C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2481C>T MANE Select	ENSP00000387393.3:p.Ser827=
ENST00000572904.6:c.2481C>T	ENSP00000461484.1:p.Ser827=
ENST00000573286.2:n.4164C>T
ENST00000574590.6:c.2481C>T	ENSP00000461812.2:p.Ser827=
ENST00000575318.6:c.2292C>T	ENSP00000461299.1:p.Ser764=
ENST00000576137.2:n.478C>T
ENST00000638275.1:c.2292C>T	ENSP00000492576.1:p.Ser764=
ENST00000639150.1:c.1215C>T	ENSP00000491906.1:p.Ser405=
ENST00000639467.1:c.144C>T	ENSP00000492741.1:p.Ser48=
ENST00000639531.1:c.2292C>T	ENSP00000491765.1:p.Ser764=
ENST00000640636.1:c.434C>T
ENST00000648792.1:c.2481C>T	ENSP00000497628.1:p.Ser827=
ENST00000262419.10:c.2481C>T	ENSP00000262419.6:p.Ser827=
ENST00000432791.5:c.2481C>T	ENSP00000387393.2:p.Ser827=
ENST00000572218.5:n.6698C>T
ENST00000572904.5:c.2481C>T	ENSP00000461484.1:p.Ser827=
ENST00000573286.1:n.337C>T
ENST00000574590.5:c.2481C>T	ENSP00000461812.1:p.Ser827=
ENST00000575318.5:c.2292C>T	ENSP00000461299.1:p.Ser764=
ENST00000576137.1:n.120C>T
ENST00000576870.5:n.453C>T
NM_001193465.1:c.2481C>T	NP_001180394.1:p.Ser827=
NM_001193466.1:c.2481C>T	NP_001180395.1:p.Ser827=
NM_015443.3:c.2481C>T	NP_056258.1:p.Ser827=
XM_006721823.1:c.2481C>T	XP_006721886.1:p.Ser827=
XM_006721824.2:c.2481C>T	XP_006721887.1:p.Ser827=
XM_011524628.1:c.2481C>T	XP_011522930.1:p.Ser827=
XM_011524629.1:c.2379C>T	XP_011522931.1:p.Ser793=
XM_011524630.1:c.2292C>T	XP_011522932.1:p.Ser764=
XM_011524631.1:c.2292C>T	XP_011522933.1:p.Ser764=
XM_011524632.1:c.1251C>T	XP_011522934.1:p.Ser417=
XM_006721823.2:c.2481C>T	XP_006721886.1:p.Ser827=
XM_006721824.4:c.2481C>T	XP_006721887.1:p.Ser827=
XM_011524628.3:c.2481C>T	XP_011522930.1:p.Ser827=
XM_011524629.3:c.2379C>T	XP_011522931.1:p.Ser793=
XM_011524630.3:c.2292C>T	XP_011522932.1:p.Ser764=
XM_011524631.3:c.2292C>T	XP_011522933.1:p.Ser764=
XM_011524632.3:c.1251C>T	XP_011522934.1:p.Ser417=
XM_017024488.2:c.2292C>T	XP_016879977.1:p.Ser764=
XM_017024489.1:c.2379C>T	XP_016879978.1:p.Ser793=
NM_001193466.2:c.2481C>T	NP_001180395.1:p.Ser827=
NM_015443.4:c.2481C>T MANE Select	NP_056258.1:p.Ser827=
NM_001193465.2:c.2481C>T	NP_001180394.1:p.Ser827=
NM_001379198.1:c.2481C>T	NP_001366127.1:p.Ser827=