Canonical Allele Identifier: CA399986166

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46031693-G-T
• MyVariant Identifiers: chr17:g.44109059G>T (hg19) ; chr17:g.46031693G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031693G>T , CM000679.2:g.46031693G>T	GRCh38
NC_000017.10:g.44109059G>T , CM000679.1:g.44109059G>T	GRCh37
NC_000017.9:g.41464906G>T	NCBI36
NG_032784.1:g.198682C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3101C>A MANE Select	ENSP00000387393.3:p.Pro1034His
ENST00000572904.6:c.3101C>A	ENSP00000461484.1:p.Pro1034His
ENST00000574590.6:c.3098C>A	ENSP00000461812.2:p.Pro1033His
ENST00000575318.6:c.2909C>A	ENSP00000461299.1:p.Pro970His
ENST00000638275.1:c.2909C>A	ENSP00000492576.1:p.Pro970His
ENST00000639805.1:n.518C>A
ENST00000648792.1:c.2969C>A	ENSP00000497628.1:p.Pro990His
ENST00000262419.10:c.3101C>A	ENSP00000262419.6:p.Pro1034His
ENST00000432791.5:c.3098C>A	ENSP00000387393.2:p.Pro1033His
ENST00000572218.5:n.7318C>A
ENST00000572904.5:c.3101C>A	ENSP00000461484.1:p.Pro1034His
ENST00000574590.5:c.3101C>A	ENSP00000461812.1:p.Pro1034His
ENST00000574963.1:n.874C>A
ENST00000575318.5:c.2909C>A	ENSP00000461299.1:p.Pro970His
ENST00000576870.5:n.1073C>A
NM_001193465.1:c.3098C>A	NP_001180394.1:p.Pro1033His
NM_001193466.1:c.3101C>A	NP_001180395.1:p.Pro1034His
NM_015443.3:c.3101C>A	NP_056258.1:p.Pro1034His
XM_006721823.1:c.3101C>A	XP_006721886.1:p.Pro1034His
XM_006721824.2:c.3101C>A	XP_006721887.1:p.Pro1034His
XM_011524628.1:c.3098C>A	XP_011522930.1:p.Pro1033His
XM_011524629.1:c.2999C>A	XP_011522931.1:p.Pro1000His
XM_011524630.1:c.2912C>A	XP_011522932.1:p.Pro971His
XM_011524631.1:c.2909C>A	XP_011522933.1:p.Pro970His
XM_011524632.1:c.1871C>A	XP_011522934.1:p.Pro624His
XM_006721823.2:c.3101C>A	XP_006721886.1:p.Pro1034His
XM_006721824.4:c.3101C>A	XP_006721887.1:p.Pro1034His
XM_011524628.3:c.3098C>A	XP_011522930.1:p.Pro1033His
XM_011524629.3:c.2999C>A	XP_011522931.1:p.Pro1000His
XM_011524630.3:c.2912C>A	XP_011522932.1:p.Pro971His
XM_011524631.3:c.2909C>A	XP_011522933.1:p.Pro970His
XM_011524632.3:c.1871C>A	XP_011522934.1:p.Pro624His
XM_017024488.2:c.2909C>A	XP_016879977.1:p.Pro970His
NM_001193466.2:c.3101C>A	NP_001180395.1:p.Pro1034His
NM_015443.4:c.3101C>A MANE Select	NP_056258.1:p.Pro1034His
NM_001193465.2:c.3098C>A	NP_001180394.1:p.Pro1033His
NM_001379198.1:c.3101C>A	NP_001366127.1:p.Pro1034His