Canonical Allele Identifier: CA315229

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 205801
• ClinVar RCV Id: RCV000187789
• dbSNP Id: rs796052598
• MyVariant Identifiers: chr17:g.44108862G>C (hg19) ; chr17:g.46031496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031496G>C , CM000679.2:g.46031496G>C	GRCh38
NC_000017.10:g.44108862G>C , CM000679.1:g.44108862G>C	GRCh37
NC_000017.9:g.41464709G>C	NCBI36
NG_032784.1:g.198879C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.3298C>G MANE Select	ENSP00000387393.3:p.Gln1100Glu
ENST00000572904.6:c.3298C>G	ENSP00000461484.1:p.Gln1100Glu
ENST00000574590.6:c.3295C>G	ENSP00000461812.2:p.Gln1099Glu
ENST00000575318.6:c.3106C>G	ENSP00000461299.1:p.Gln1036Glu
ENST00000638275.1:c.3106C>G	ENSP00000492576.1:p.Gln1036Glu
ENST00000648792.1:c.3166C>G	ENSP00000497628.1:p.Gln1056Glu
ENST00000262419.10:c.3298C>G	ENSP00000262419.6:p.Gln1100Glu
ENST00000432791.5:c.3295C>G	ENSP00000387393.2:p.Gln1099Glu
ENST00000572218.5:n.7515C>G
ENST00000572904.5:c.3298C>G	ENSP00000461484.1:p.Gln1100Glu
ENST00000574590.5:c.3298C>G	ENSP00000461812.1:p.Gln1100Glu
ENST00000574963.1:n.1071C>G
ENST00000575318.5:c.3106C>G	ENSP00000461299.1:p.Gln1036Glu
ENST00000576870.5:n.1270C>G
NM_001193465.1:c.3295C>G	NP_001180394.1:p.Gln1099Glu
NM_001193466.1:c.3298C>G	NP_001180395.1:p.Gln1100Glu
NM_015443.3:c.3298C>G	NP_056258.1:p.Gln1100Glu
XM_006721823.1:c.3298C>G	XP_006721886.1:p.Gln1100Glu
XM_006721824.2:c.3298C>G	XP_006721887.1:p.Gln1100Glu
XM_011524628.1:c.3295C>G	XP_011522930.1:p.Gln1099Glu
XM_011524629.1:c.3196C>G	XP_011522931.1:p.Gln1066Glu
XM_011524630.1:c.3109C>G	XP_011522932.1:p.Gln1037Glu
XM_011524631.1:c.3106C>G	XP_011522933.1:p.Gln1036Glu
XM_011524632.1:c.2068C>G	XP_011522934.1:p.Gln690Glu
XM_006721823.2:c.3298C>G	XP_006721886.1:p.Gln1100Glu
XM_006721824.4:c.3298C>G	XP_006721887.1:p.Gln1100Glu
XM_011524628.3:c.3295C>G	XP_011522930.1:p.Gln1099Glu
XM_011524629.3:c.3196C>G	XP_011522931.1:p.Gln1066Glu
XM_011524630.3:c.3109C>G	XP_011522932.1:p.Gln1037Glu
XM_011524631.3:c.3106C>G	XP_011522933.1:p.Gln1036Glu
XM_011524632.3:c.2068C>G	XP_011522934.1:p.Gln690Glu
XM_017024488.2:c.3106C>G	XP_016879977.1:p.Gln1036Glu
NM_001193466.2:c.3298C>G	NP_001180395.1:p.Gln1100Glu
NM_015443.4:c.3298C>G MANE Select	NP_056258.1:p.Gln1100Glu
NM_001193465.2:c.3295C>G	NP_001180394.1:p.Gln1099Glu
NM_001379198.1:c.3298C>G	NP_001366127.1:p.Gln1100Glu