Canonical Allele Identifier: CA399986420

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 1914812
• ClinVar RCV Id: RCV002597841
• dbSNP Id: rs2077025778
• gnomAD v4: 17-46032094-T-C
• MyVariant Identifiers: chr17:g.44109460T>C (hg19) ; chr17:g.46032094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032094T>C , CM000679.2:g.46032094T>C	GRCh38
NC_000017.10:g.44109460T>C , CM000679.1:g.44109460T>C	GRCh37
NC_000017.9:g.41465307T>C	NCBI36
NG_032784.1:g.198281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3043A>G MANE Select	ENSP00000387393.3:p.Ser1015Gly
ENST00000572904.6:c.3043A>G	ENSP00000461484.1:p.Ser1015Gly
ENST00000574590.6:c.3040A>G	ENSP00000461812.2:p.Ser1014Gly
ENST00000575318.6:c.2851A>G	ENSP00000461299.1:p.Ser951Gly
ENST00000638275.1:c.2851A>G	ENSP00000492576.1:p.Ser951Gly
ENST00000639805.1:n.460A>G
ENST00000648792.1:c.2911A>G	ENSP00000497628.1:p.Ser971Gly
ENST00000262419.10:c.3043A>G	ENSP00000262419.6:p.Ser1015Gly
ENST00000432791.5:c.3040A>G	ENSP00000387393.2:p.Ser1014Gly
ENST00000572218.5:n.7260A>G
ENST00000572904.5:c.3043A>G	ENSP00000461484.1:p.Ser1015Gly
ENST00000574590.5:c.3043A>G	ENSP00000461812.1:p.Ser1015Gly
ENST00000574963.1:n.473A>G
ENST00000575318.5:c.2851A>G	ENSP00000461299.1:p.Ser951Gly
ENST00000576870.5:n.1015A>G
NM_001193465.1:c.3040A>G	NP_001180394.1:p.Ser1014Gly
NM_001193466.1:c.3043A>G	NP_001180395.1:p.Ser1015Gly
NM_015443.3:c.3043A>G	NP_056258.1:p.Ser1015Gly
XM_006721823.1:c.3043A>G	XP_006721886.1:p.Ser1015Gly
XM_006721824.2:c.3043A>G	XP_006721887.1:p.Ser1015Gly
XM_011524628.1:c.3040A>G	XP_011522930.1:p.Ser1014Gly
XM_011524629.1:c.2941A>G	XP_011522931.1:p.Ser981Gly
XM_011524630.1:c.2854A>G	XP_011522932.1:p.Ser952Gly
XM_011524631.1:c.2851A>G	XP_011522933.1:p.Ser951Gly
XM_011524632.1:c.1813A>G	XP_011522934.1:p.Ser605Gly
XM_006721823.2:c.3043A>G	XP_006721886.1:p.Ser1015Gly
XM_006721824.4:c.3043A>G	XP_006721887.1:p.Ser1015Gly
XM_011524628.3:c.3040A>G	XP_011522930.1:p.Ser1014Gly
XM_011524629.3:c.2941A>G	XP_011522931.1:p.Ser981Gly
XM_011524630.3:c.2854A>G	XP_011522932.1:p.Ser952Gly
XM_011524631.3:c.2851A>G	XP_011522933.1:p.Ser951Gly
XM_011524632.3:c.1813A>G	XP_011522934.1:p.Ser605Gly
XM_017024488.2:c.2851A>G	XP_016879977.1:p.Ser951Gly
NM_001193466.2:c.3043A>G	NP_001180395.1:p.Ser1015Gly
NM_015443.4:c.3043A>G MANE Select	NP_056258.1:p.Ser1015Gly
NM_001193465.2:c.3040A>G	NP_001180394.1:p.Ser1014Gly
NM_001379198.1:c.3043A>G	NP_001366127.1:p.Ser1015Gly