Canonical Allele Identifier: CA399986583

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46032132-A-T
• MyVariant Identifiers: chr17:g.44109498A>T (hg19) ; chr17:g.46032132A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032132A>T , CM000679.2:g.46032132A>T	GRCh38
NC_000017.10:g.44109498A>T , CM000679.1:g.44109498A>T	GRCh37
NC_000017.9:g.41465345A>T	NCBI36
NG_032784.1:g.198243T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3005T>A MANE Select	ENSP00000387393.3:p.Leu1002His
ENST00000572904.6:c.3005T>A	ENSP00000461484.1:p.Leu1002His
ENST00000574590.6:c.3002T>A	ENSP00000461812.2:p.Leu1001His
ENST00000575318.6:c.2813T>A	ENSP00000461299.1:p.Leu938His
ENST00000638275.1:c.2813T>A	ENSP00000492576.1:p.Leu938His
ENST00000639467.1:c.662T>A	ENSP00000492741.1:p.Leu221His
ENST00000639805.1:n.422T>A
ENST00000648792.1:c.2873T>A	ENSP00000497628.1:p.Leu958His
ENST00000262419.10:c.3005T>A	ENSP00000262419.6:p.Leu1002His
ENST00000432791.5:c.3002T>A	ENSP00000387393.2:p.Leu1001His
ENST00000572218.5:n.7222T>A
ENST00000572904.5:c.3005T>A	ENSP00000461484.1:p.Leu1002His
ENST00000574590.5:c.3005T>A	ENSP00000461812.1:p.Leu1002His
ENST00000574963.1:n.435T>A
ENST00000575318.5:c.2813T>A	ENSP00000461299.1:p.Leu938His
ENST00000576870.5:n.977T>A
NM_001193465.1:c.3002T>A	NP_001180394.1:p.Leu1001His
NM_001193466.1:c.3005T>A	NP_001180395.1:p.Leu1002His
NM_015443.3:c.3005T>A	NP_056258.1:p.Leu1002His
XM_006721823.1:c.3005T>A	XP_006721886.1:p.Leu1002His
XM_006721824.2:c.3005T>A	XP_006721887.1:p.Leu1002His
XM_011524628.1:c.3002T>A	XP_011522930.1:p.Leu1001His
XM_011524629.1:c.2903T>A	XP_011522931.1:p.Leu968His
XM_011524630.1:c.2816T>A	XP_011522932.1:p.Leu939His
XM_011524631.1:c.2813T>A	XP_011522933.1:p.Leu938His
XM_011524632.1:c.1775T>A	XP_011522934.1:p.Leu592His
XM_006721823.2:c.3005T>A	XP_006721886.1:p.Leu1002His
XM_006721824.4:c.3005T>A	XP_006721887.1:p.Leu1002His
XM_011524628.3:c.3002T>A	XP_011522930.1:p.Leu1001His
XM_011524629.3:c.2903T>A	XP_011522931.1:p.Leu968His
XM_011524630.3:c.2816T>A	XP_011522932.1:p.Leu939His
XM_011524631.3:c.2813T>A	XP_011522933.1:p.Leu938His
XM_011524632.3:c.1775T>A	XP_011522934.1:p.Leu592His
XM_017024488.2:c.2813T>A	XP_016879977.1:p.Leu938His
NM_001193466.2:c.3005T>A	NP_001180395.1:p.Leu1002His
NM_015443.4:c.3005T>A MANE Select	NP_056258.1:p.Leu1002His
NM_001193465.2:c.3002T>A	NP_001180394.1:p.Leu1001His
NM_001379198.1:c.3005T>A	NP_001366127.1:p.Leu1002His