Canonical Allele Identifier: CA772454138

Gene: KANSL1

Linked Data

• dbSNP Id: rs1277117445
• gnomAD v4: 17-46038427-C-T
• MyVariant Identifiers: chr17:g.44115793C>T (hg19) ; chr17:g.46038427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038427C>T , CM000679.2:g.46038427C>T	GRCh38
NC_000017.10:g.44115793C>T , CM000679.1:g.44115793C>T	GRCh37
NC_000017.9:g.41471640C>T	NCBI36
NG_032784.1:g.191948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2541+111G>A MANE Select	ENSP00000387393.3:n.2541+111G>A
ENST00000572904.6:c.2541+111G>A	ENSP00000461484.1:n.2541+111G>A
ENST00000573286.2:n.4335G>A
ENST00000574590.6:c.2541+111G>A	ENSP00000461812.2:n.2541+111G>A
ENST00000575318.6:c.2352+111G>A	ENSP00000461299.1:n.2352+111G>A
ENST00000576137.2:n.538+111G>A
ENST00000638275.1:c.2352+111G>A	ENSP00000492576.1:n.2352+111G>A
ENST00000639150.1:c.1275+111G>A	ENSP00000491906.1:n.1275+111G>A
ENST00000639467.1:c.204+111G>A	ENSP00000492741.1:n.204+111G>A
ENST00000639531.1:c.2352+111G>A	ENSP00000491765.1:n.2352+111G>A
ENST00000640636.1:c.494+111G>A
ENST00000648792.1:c.2541+111G>A	ENSP00000497628.1:n.2541+111G>A
ENST00000262419.10:c.2541+111G>A	ENSP00000262419.6:n.2541+111G>A
ENST00000432791.5:c.2541+111G>A	ENSP00000387393.2:n.2541+111G>A
ENST00000572218.5:n.6758+111G>A
ENST00000572904.5:c.2541+111G>A	ENSP00000461484.1:n.2541+111G>A
ENST00000573286.1:n.508G>A
ENST00000574590.5:c.2541+111G>A	ENSP00000461812.1:n.2541+111G>A
ENST00000575318.5:c.2352+111G>A	ENSP00000461299.1:n.2352+111G>A
ENST00000576137.1:n.180+111G>A
ENST00000576870.5:n.513+111G>A
NM_001193465.1:c.2541+111G>A	NP_001180394.1:n.2541+111G>A
NM_001193466.1:c.2541+111G>A	NP_001180395.1:n.2541+111G>A
NM_015443.3:c.2541+111G>A	NP_056258.1:n.2541+111G>A
XM_006721823.1:c.2541+111G>A	XP_006721886.1:n.2541+111G>A
XM_006721824.2:c.2541+111G>A	XP_006721887.1:n.2541+111G>A
XM_011524628.1:c.2541+111G>A	XP_011522930.1:n.2541+111G>A
XM_011524629.1:c.2439+111G>A	XP_011522931.1:n.2439+111G>A
XM_011524630.1:c.2352+111G>A	XP_011522932.1:n.2352+111G>A
XM_011524631.1:c.2352+111G>A	XP_011522933.1:n.2352+111G>A
XM_011524632.1:c.1311+111G>A	XP_011522934.1:n.1311+111G>A
XM_006721823.2:c.2541+111G>A	XP_006721886.1:n.2541+111G>A
XM_006721824.4:c.2541+111G>A	XP_006721887.1:n.2541+111G>A
XM_011524628.3:c.2541+111G>A	XP_011522930.1:n.2541+111G>A
XM_011524629.3:c.2439+111G>A	XP_011522931.1:n.2439+111G>A
XM_011524630.3:c.2352+111G>A	XP_011522932.1:n.2352+111G>A
XM_011524631.3:c.2352+111G>A	XP_011522933.1:n.2352+111G>A
XM_011524632.3:c.1311+111G>A	XP_011522934.1:n.1311+111G>A
XM_017024488.2:c.2352+111G>A	XP_016879977.1:n.2352+111G>A
XM_017024489.1:c.2550G>A	XP_016879978.1:p.Arg850=
NM_001193466.2:c.2541+111G>A	NP_001180395.1:n.2541+111G>A
NM_015443.4:c.2541+111G>A MANE Select	NP_056258.1:n.2541+111G>A
NM_001193465.2:c.2541+111G>A	NP_001180394.1:n.2541+111G>A
NM_001379198.1:c.2541+111G>A	NP_001366127.1:n.2541+111G>A