Canonical Allele Identifier: CA8618553

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 1592449
• ClinVar RCV Id: RCV002122251
• dbSNP Id: rs200903355
• ExAC: 17:44115955 T / C
• gnomAD v2: 17-44115955-T-C
• gnomAD v3: 17-46038589-T-C
• gnomAD v4: 17-46038589-T-C
• MyVariant Identifiers: chr17:g.44115955T>C (hg19) ; chr17:g.44115955_44115958delinsCGAG (hg19) ; chr17:g.46038589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038589T>C , CM000679.2:g.46038589T>C	GRCh38
NC_000017.10:g.44115955T>C , CM000679.1:g.44115955T>C	GRCh37
NC_000017.9:g.41471802T>C	NCBI36
NG_032784.1:g.191786A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2490A>G MANE Select	ENSP00000387393.3:p.Ser830=
ENST00000572904.6:c.2490A>G	ENSP00000461484.1:p.Ser830=
ENST00000573286.2:n.4173A>G
ENST00000574590.6:c.2490A>G	ENSP00000461812.2:p.Ser830=
ENST00000575318.6:c.2301A>G	ENSP00000461299.1:p.Ser767=
ENST00000576137.2:n.487A>G
ENST00000638275.1:c.2301A>G	ENSP00000492576.1:p.Ser767=
ENST00000639150.1:c.1224A>G	ENSP00000491906.1:p.Ser408=
ENST00000639467.1:c.153A>G	ENSP00000492741.1:p.Ser51=
ENST00000639531.1:c.2301A>G	ENSP00000491765.1:p.Ser767=
ENST00000640636.1:c.443A>G
ENST00000648792.1:c.2490A>G	ENSP00000497628.1:p.Ser830=
ENST00000262419.10:c.2490A>G	ENSP00000262419.6:p.Ser830=
ENST00000432791.5:c.2490A>G	ENSP00000387393.2:p.Ser830=
ENST00000572218.5:n.6707A>G
ENST00000572904.5:c.2490A>G	ENSP00000461484.1:p.Ser830=
ENST00000573286.1:n.346A>G
ENST00000574590.5:c.2490A>G	ENSP00000461812.1:p.Ser830=
ENST00000575318.5:c.2301A>G	ENSP00000461299.1:p.Ser767=
ENST00000576137.1:n.129A>G
ENST00000576870.5:n.462A>G
NM_001193465.1:c.2490A>G	NP_001180394.1:p.Ser830=
NM_001193466.1:c.2490A>G	NP_001180395.1:p.Ser830=
NM_015443.3:c.2490A>G	NP_056258.1:p.Ser830=
XM_006721823.1:c.2490A>G	XP_006721886.1:p.Ser830=
XM_006721824.2:c.2490A>G	XP_006721887.1:p.Ser830=
XM_011524628.1:c.2490A>G	XP_011522930.1:p.Ser830=
XM_011524629.1:c.2388A>G	XP_011522931.1:p.Ser796=
XM_011524630.1:c.2301A>G	XP_011522932.1:p.Ser767=
XM_011524631.1:c.2301A>G	XP_011522933.1:p.Ser767=
XM_011524632.1:c.1260A>G	XP_011522934.1:p.Ser420=
XM_006721823.2:c.2490A>G	XP_006721886.1:p.Ser830=
XM_006721824.4:c.2490A>G	XP_006721887.1:p.Ser830=
XM_011524628.3:c.2490A>G	XP_011522930.1:p.Ser830=
XM_011524629.3:c.2388A>G	XP_011522931.1:p.Ser796=
XM_011524630.3:c.2301A>G	XP_011522932.1:p.Ser767=
XM_011524631.3:c.2301A>G	XP_011522933.1:p.Ser767=
XM_011524632.3:c.1260A>G	XP_011522934.1:p.Ser420=
XM_017024488.2:c.2301A>G	XP_016879977.1:p.Ser767=
XM_017024489.1:c.2388A>G	XP_016879978.1:p.Ser796=
NM_001193466.2:c.2490A>G	NP_001180395.1:p.Ser830=
NM_015443.4:c.2490A>G MANE Select	NP_056258.1:p.Ser830=
NM_001193465.2:c.2490A>G	NP_001180394.1:p.Ser830=
NM_001379198.1:c.2490A>G	NP_001366127.1:p.Ser830=