Canonical Allele Identifier: CA8618340

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 2416399
• ClinVar RCV Id: RCV003107148
• dbSNP Id: rs747976314
• ExAC: 17:44108923 C / T
• gnomAD v2: 17-44108923-C-T
• gnomAD v3: 17-46031557-C-T
• gnomAD v4: 17-46031557-C-T
• COSMIC: COSM158679
• MyVariant Identifiers: chr17:g.44108923C>T (hg19) ; chr17:g.46031557C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031557C>T , CM000679.2:g.46031557C>T	GRCh38
NC_000017.10:g.44108923C>T , CM000679.1:g.44108923C>T	GRCh37
NC_000017.9:g.41464770C>T	NCBI36
NG_032784.1:g.198818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3237G>A MANE Select	ENSP00000387393.3:p.Ala1079=
ENST00000572904.6:c.3237G>A	ENSP00000461484.1:p.Ala1079=
ENST00000574590.6:c.3234G>A	ENSP00000461812.2:p.Ala1078=
ENST00000575318.6:c.3045G>A	ENSP00000461299.1:p.Ala1015=
ENST00000638275.1:c.3045G>A	ENSP00000492576.1:p.Ala1015=
ENST00000648792.1:c.3105G>A	ENSP00000497628.1:p.Ala1035=
ENST00000262419.10:c.3237G>A	ENSP00000262419.6:p.Ala1079=
ENST00000432791.5:c.3234G>A	ENSP00000387393.2:p.Ala1078=
ENST00000572218.5:n.7454G>A
ENST00000572904.5:c.3237G>A	ENSP00000461484.1:p.Ala1079=
ENST00000574590.5:c.3237G>A	ENSP00000461812.1:p.Ala1079=
ENST00000574963.1:n.1010G>A
ENST00000575318.5:c.3045G>A	ENSP00000461299.1:p.Ala1015=
ENST00000576870.5:n.1209G>A
NM_001193465.1:c.3234G>A	NP_001180394.1:p.Ala1078=
NM_001193466.1:c.3237G>A	NP_001180395.1:p.Ala1079=
NM_015443.3:c.3237G>A	NP_056258.1:p.Ala1079=
XM_006721823.1:c.3237G>A	XP_006721886.1:p.Ala1079=
XM_006721824.2:c.3237G>A	XP_006721887.1:p.Ala1079=
XM_011524628.1:c.3234G>A	XP_011522930.1:p.Ala1078=
XM_011524629.1:c.3135G>A	XP_011522931.1:p.Ala1045=
XM_011524630.1:c.3048G>A	XP_011522932.1:p.Ala1016=
XM_011524631.1:c.3045G>A	XP_011522933.1:p.Ala1015=
XM_011524632.1:c.2007G>A	XP_011522934.1:p.Ala669=
XM_006721823.2:c.3237G>A	XP_006721886.1:p.Ala1079=
XM_006721824.4:c.3237G>A	XP_006721887.1:p.Ala1079=
XM_011524628.3:c.3234G>A	XP_011522930.1:p.Ala1078=
XM_011524629.3:c.3135G>A	XP_011522931.1:p.Ala1045=
XM_011524630.3:c.3048G>A	XP_011522932.1:p.Ala1016=
XM_011524631.3:c.3045G>A	XP_011522933.1:p.Ala1015=
XM_011524632.3:c.2007G>A	XP_011522934.1:p.Ala669=
XM_017024488.2:c.3045G>A	XP_016879977.1:p.Ala1015=
NM_001193466.2:c.3237G>A	NP_001180395.1:p.Ala1079=
NM_015443.4:c.3237G>A MANE Select	NP_056258.1:p.Ala1079=
NM_001193465.2:c.3234G>A	NP_001180394.1:p.Ala1078=
NM_001379198.1:c.3237G>A	NP_001366127.1:p.Ala1079=