Canonical Allele Identifier: CA291125443

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 512496
• ClinVar RCV Id: RCV000868943 ; RCV001480385
• dbSNP Id: rs960036500
• gnomAD v2: 17-44109037-G-C
• gnomAD v3: 17-46031671-G-C
• gnomAD v4: 17-46031671-G-C
• MyVariant Identifiers: chr17:g.44109037G>C (hg19) ; chr17:g.46031671G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031671G>C , CM000679.2:g.46031671G>C	GRCh38
NC_000017.10:g.44109037G>C , CM000679.1:g.44109037G>C	GRCh37
NC_000017.9:g.41464884G>C	NCBI36
NG_032784.1:g.198704C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3123C>G MANE Select	ENSP00000387393.3:p.Pro1041=
ENST00000572904.6:c.3123C>G	ENSP00000461484.1:p.Pro1041=
ENST00000574590.6:c.3120C>G	ENSP00000461812.2:p.Pro1040=
ENST00000575318.6:c.2931C>G	ENSP00000461299.1:p.Pro977=
ENST00000638275.1:c.2931C>G	ENSP00000492576.1:p.Pro977=
ENST00000639805.1:n.540C>G
ENST00000648792.1:c.2991C>G	ENSP00000497628.1:p.Pro997=
ENST00000262419.10:c.3123C>G	ENSP00000262419.6:p.Pro1041=
ENST00000432791.5:c.3120C>G	ENSP00000387393.2:p.Pro1040=
ENST00000572218.5:n.7340C>G
ENST00000572904.5:c.3123C>G	ENSP00000461484.1:p.Pro1041=
ENST00000574590.5:c.3123C>G	ENSP00000461812.1:p.Pro1041=
ENST00000574963.1:n.896C>G
ENST00000575318.5:c.2931C>G	ENSP00000461299.1:p.Pro977=
ENST00000576870.5:n.1095C>G
NM_001193465.1:c.3120C>G	NP_001180394.1:p.Pro1040=
NM_001193466.1:c.3123C>G	NP_001180395.1:p.Pro1041=
NM_015443.3:c.3123C>G	NP_056258.1:p.Pro1041=
XM_006721823.1:c.3123C>G	XP_006721886.1:p.Pro1041=
XM_006721824.2:c.3123C>G	XP_006721887.1:p.Pro1041=
XM_011524628.1:c.3120C>G	XP_011522930.1:p.Pro1040=
XM_011524629.1:c.3021C>G	XP_011522931.1:p.Pro1007=
XM_011524630.1:c.2934C>G	XP_011522932.1:p.Pro978=
XM_011524631.1:c.2931C>G	XP_011522933.1:p.Pro977=
XM_011524632.1:c.1893C>G	XP_011522934.1:p.Pro631=
XM_006721823.2:c.3123C>G	XP_006721886.1:p.Pro1041=
XM_006721824.4:c.3123C>G	XP_006721887.1:p.Pro1041=
XM_011524628.3:c.3120C>G	XP_011522930.1:p.Pro1040=
XM_011524629.3:c.3021C>G	XP_011522931.1:p.Pro1007=
XM_011524630.3:c.2934C>G	XP_011522932.1:p.Pro978=
XM_011524631.3:c.2931C>G	XP_011522933.1:p.Pro977=
XM_011524632.3:c.1893C>G	XP_011522934.1:p.Pro631=
XM_017024488.2:c.2931C>G	XP_016879977.1:p.Pro977=
NM_001193466.2:c.3123C>G	NP_001180395.1:p.Pro1041=
NM_015443.4:c.3123C>G MANE Select	NP_056258.1:p.Pro1041=
NM_001193465.2:c.3120C>G	NP_001180394.1:p.Pro1040=
NM_001379198.1:c.3123C>G	NP_001366127.1:p.Pro1041=