Canonical Allele Identifier: CA16607296

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 392437
• ClinVar RCV Id: RCV000443072
• dbSNP Id: rs767917046
• gnomAD v4: 17-46031700-C-A
• MyVariant Identifiers: chr17:g.44109066C>A (hg19) ; chr17:g.46031700C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031700C>A , CM000679.2:g.46031700C>A	GRCh38
NC_000017.10:g.44109066C>A , CM000679.1:g.44109066C>A	GRCh37
NC_000017.9:g.41464913C>A	NCBI36
NG_032784.1:g.198675G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3094G>T MANE Select	ENSP00000387393.3:p.Val1032Phe
ENST00000572904.6:c.3094G>T	ENSP00000461484.1:p.Val1032Phe
ENST00000574590.6:c.3091G>T	ENSP00000461812.2:p.Val1031Phe
ENST00000575318.6:c.2902G>T	ENSP00000461299.1:p.Val968Phe
ENST00000638275.1:c.2902G>T	ENSP00000492576.1:p.Val968Phe
ENST00000639805.1:n.511G>T
ENST00000648792.1:c.2962G>T	ENSP00000497628.1:p.Val988Phe
ENST00000262419.10:c.3094G>T	ENSP00000262419.6:p.Val1032Phe
ENST00000432791.5:c.3091G>T	ENSP00000387393.2:p.Val1031Phe
ENST00000572218.5:n.7311G>T
ENST00000572904.5:c.3094G>T	ENSP00000461484.1:p.Val1032Phe
ENST00000574590.5:c.3094G>T	ENSP00000461812.1:p.Val1032Phe
ENST00000574963.1:n.867G>T
ENST00000575318.5:c.2902G>T	ENSP00000461299.1:p.Val968Phe
ENST00000576870.5:n.1066G>T
NM_001193465.1:c.3091G>T	NP_001180394.1:p.Val1031Phe
NM_001193466.1:c.3094G>T	NP_001180395.1:p.Val1032Phe
NM_015443.3:c.3094G>T	NP_056258.1:p.Val1032Phe
XM_006721823.1:c.3094G>T	XP_006721886.1:p.Val1032Phe
XM_006721824.2:c.3094G>T	XP_006721887.1:p.Val1032Phe
XM_011524628.1:c.3091G>T	XP_011522930.1:p.Val1031Phe
XM_011524629.1:c.2992G>T	XP_011522931.1:p.Val998Phe
XM_011524630.1:c.2905G>T	XP_011522932.1:p.Val969Phe
XM_011524631.1:c.2902G>T	XP_011522933.1:p.Val968Phe
XM_011524632.1:c.1864G>T	XP_011522934.1:p.Val622Phe
XM_006721823.2:c.3094G>T	XP_006721886.1:p.Val1032Phe
XM_006721824.4:c.3094G>T	XP_006721887.1:p.Val1032Phe
XM_011524628.3:c.3091G>T	XP_011522930.1:p.Val1031Phe
XM_011524629.3:c.2992G>T	XP_011522931.1:p.Val998Phe
XM_011524630.3:c.2905G>T	XP_011522932.1:p.Val969Phe
XM_011524631.3:c.2902G>T	XP_011522933.1:p.Val968Phe
XM_011524632.3:c.1864G>T	XP_011522934.1:p.Val622Phe
XM_017024488.2:c.2902G>T	XP_016879977.1:p.Val968Phe
NM_001193466.2:c.3094G>T	NP_001180395.1:p.Val1032Phe
NM_015443.4:c.3094G>T MANE Select	NP_056258.1:p.Val1032Phe
NM_001193465.2:c.3091G>T	NP_001180394.1:p.Val1031Phe
NM_001379198.1:c.3094G>T	NP_001366127.1:p.Val1032Phe