Canonical Allele Identifier: CA8618627

Gene: KANSL1

Linked Data

• dbSNP Id: rs756455623
• ExAC: 17:44116585 A / G
• gnomAD v2: 17-44116585-A-G
• gnomAD v4: 17-46039219-A-G
• MyVariant Identifiers: chr17:g.44116585A>G (hg19) ; chr17:g.46039219A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46039219A>G , CM000679.2:g.46039219A>G	GRCh38
NC_000017.10:g.44116585A>G , CM000679.1:g.44116585A>G	GRCh37
NC_000017.9:g.41472432A>G	NCBI36
NG_032784.1:g.191156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2204-4T>C MANE Select	ENSP00000387393.3:n.2204-4T>C
ENST00000572904.6:c.2204-4T>C	ENSP00000461484.1:n.2204-4T>C
ENST00000573286.2:n.3883T>C
ENST00000574590.6:c.2204-4T>C	ENSP00000461812.2:n.2204-4T>C
ENST00000575318.6:c.2203+483T>C	ENSP00000461299.1:n.2203+483T>C
ENST00000638275.1:c.2203+483T>C	ENSP00000492576.1:n.2203+483T>C
ENST00000639150.1:c.938-4T>C	ENSP00000491906.1:n.938-4T>C
ENST00000639531.1:c.2203+483T>C	ENSP00000491765.1:n.2203+483T>C
ENST00000639853.1:c.1374+483T>C
ENST00000640636.1:c.345+483T>C
ENST00000648792.1:c.2204-4T>C	ENSP00000497628.1:n.2204-4T>C
ENST00000262419.10:c.2204-4T>C	ENSP00000262419.6:n.2204-4T>C
ENST00000432791.5:c.2204-4T>C	ENSP00000387393.2:n.2204-4T>C
ENST00000572218.5:n.6421-4T>C
ENST00000572679.1:n.332T>C
ENST00000572904.5:c.2204-4T>C	ENSP00000461484.1:n.2204-4T>C
ENST00000573286.1:n.56T>C
ENST00000574590.5:c.2204-4T>C	ENSP00000461812.1:n.2204-4T>C
ENST00000575318.5:c.2203+483T>C	ENSP00000461299.1:n.2203+483T>C
ENST00000576870.5:n.364+483T>C
NM_001193465.1:c.2204-4T>C	NP_001180394.1:n.2204-4T>C
NM_001193466.1:c.2204-4T>C	NP_001180395.1:n.2204-4T>C
NM_015443.3:c.2204-4T>C	NP_056258.1:n.2204-4T>C
XM_006721823.1:c.2204-4T>C	XP_006721886.1:n.2204-4T>C
XM_006721824.2:c.2204-4T>C	XP_006721887.1:n.2204-4T>C
XM_011524628.1:c.2204-4T>C	XP_011522930.1:n.2204-4T>C
XM_011524629.1:c.2102-4T>C	XP_011522931.1:n.2102-4T>C
XM_011524630.1:c.2203+483T>C	XP_011522932.1:n.2203+483T>C
XM_011524631.1:c.2203+483T>C	XP_011522933.1:n.2203+483T>C
XM_011524632.1:c.974-4T>C	XP_011522934.1:n.974-4T>C
XM_006721823.2:c.2204-4T>C	XP_006721886.1:n.2204-4T>C
XM_006721824.4:c.2204-4T>C	XP_006721887.1:n.2204-4T>C
XM_011524628.3:c.2204-4T>C	XP_011522930.1:n.2204-4T>C
XM_011524629.3:c.2102-4T>C	XP_011522931.1:n.2102-4T>C
XM_011524630.3:c.2203+483T>C	XP_011522932.1:n.2203+483T>C
XM_011524631.3:c.2203+483T>C	XP_011522933.1:n.2203+483T>C
XM_011524632.3:c.974-4T>C	XP_011522934.1:n.974-4T>C
XM_017024488.2:c.2203+483T>C	XP_016879977.1:n.2203+483T>C
XM_017024489.1:c.2102-4T>C	XP_016879978.1:n.2102-4T>C
NM_001193466.2:c.2204-4T>C	NP_001180395.1:n.2204-4T>C
NM_015443.4:c.2204-4T>C MANE Select	NP_056258.1:n.2204-4T>C
NM_001193465.2:c.2204-4T>C	NP_001180394.1:n.2204-4T>C
NM_001379198.1:c.2204-4T>C	NP_001366127.1:n.2204-4T>C