Canonical Allele Identifier: CA399980009

Gene: KANSL1

Linked Data

• dbSNP Id: rs2077218510
• gnomAD v3: 17-46038546-T-C
• gnomAD v4: 17-46038546-T-C
• MyVariant Identifiers: chr17:g.44115912T>C (hg19) ; chr17:g.46038546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038546T>C , CM000679.2:g.46038546T>C	GRCh38
NC_000017.10:g.44115912T>C , CM000679.1:g.44115912T>C	GRCh37
NC_000017.9:g.41471759T>C	NCBI36
NG_032784.1:g.191829A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2533A>G MANE Select	ENSP00000387393.3:p.Ser845Gly
ENST00000572904.6:c.2533A>G	ENSP00000461484.1:p.Ser845Gly
ENST00000573286.2:n.4216A>G
ENST00000574590.6:c.2533A>G	ENSP00000461812.2:p.Ser845Gly
ENST00000575318.6:c.2344A>G	ENSP00000461299.1:p.Ser782Gly
ENST00000576137.2:n.530A>G
ENST00000638275.1:c.2344A>G	ENSP00000492576.1:p.Ser782Gly
ENST00000639150.1:c.1267A>G	ENSP00000491906.1:p.Ser423Gly
ENST00000639467.1:c.196A>G	ENSP00000492741.1:p.Ser66Gly
ENST00000639531.1:c.2344A>G	ENSP00000491765.1:p.Ser782Gly
ENST00000640636.1:c.486A>G
ENST00000648792.1:c.2533A>G	ENSP00000497628.1:p.Ser845Gly
ENST00000262419.10:c.2533A>G	ENSP00000262419.6:p.Ser845Gly
ENST00000432791.5:c.2533A>G	ENSP00000387393.2:p.Ser845Gly
ENST00000572218.5:n.6750A>G
ENST00000572904.5:c.2533A>G	ENSP00000461484.1:p.Ser845Gly
ENST00000573286.1:n.389A>G
ENST00000574590.5:c.2533A>G	ENSP00000461812.1:p.Ser845Gly
ENST00000575318.5:c.2344A>G	ENSP00000461299.1:p.Ser782Gly
ENST00000576137.1:n.172A>G
ENST00000576870.5:n.505A>G
NM_001193465.1:c.2533A>G	NP_001180394.1:p.Ser845Gly
NM_001193466.1:c.2533A>G	NP_001180395.1:p.Ser845Gly
NM_015443.3:c.2533A>G	NP_056258.1:p.Ser845Gly
XM_006721823.1:c.2533A>G	XP_006721886.1:p.Ser845Gly
XM_006721824.2:c.2533A>G	XP_006721887.1:p.Ser845Gly
XM_011524628.1:c.2533A>G	XP_011522930.1:p.Ser845Gly
XM_011524629.1:c.2431A>G	XP_011522931.1:p.Ser811Gly
XM_011524630.1:c.2344A>G	XP_011522932.1:p.Ser782Gly
XM_011524631.1:c.2344A>G	XP_011522933.1:p.Ser782Gly
XM_011524632.1:c.1303A>G	XP_011522934.1:p.Ser435Gly
XM_006721823.2:c.2533A>G	XP_006721886.1:p.Ser845Gly
XM_006721824.4:c.2533A>G	XP_006721887.1:p.Ser845Gly
XM_011524628.3:c.2533A>G	XP_011522930.1:p.Ser845Gly
XM_011524629.3:c.2431A>G	XP_011522931.1:p.Ser811Gly
XM_011524630.3:c.2344A>G	XP_011522932.1:p.Ser782Gly
XM_011524631.3:c.2344A>G	XP_011522933.1:p.Ser782Gly
XM_011524632.3:c.1303A>G	XP_011522934.1:p.Ser435Gly
XM_017024488.2:c.2344A>G	XP_016879977.1:p.Ser782Gly
XM_017024489.1:c.2431A>G	XP_016879978.1:p.Ser811Gly
NM_001193466.2:c.2533A>G	NP_001180395.1:p.Ser845Gly
NM_015443.4:c.2533A>G MANE Select	NP_056258.1:p.Ser845Gly
NM_001193465.2:c.2533A>G	NP_001180394.1:p.Ser845Gly
NM_001379198.1:c.2533A>G	NP_001366127.1:p.Ser845Gly