Canonical Allele Identifier: CA500372051

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 2797598
• ClinVar RCV Id: RCV003643319
• dbSNP Id: rs1322313910
• gnomAD v4: 17-46032248-G-A
• MyVariant Identifiers: chr17:g.44109614G>A (hg19) ; chr17:g.46032248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032248G>A , CM000679.2:g.46032248G>A	GRCh38
NC_000017.10:g.44109614G>A , CM000679.1:g.44109614G>A	GRCh37
NC_000017.9:g.41465461G>A	NCBI36
NG_032784.1:g.198127C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2889C>T MANE Select	ENSP00000387393.3:p.Asn963=
ENST00000572904.6:c.2889C>T	ENSP00000461484.1:p.Asn963=
ENST00000574590.6:c.2886C>T	ENSP00000461812.2:p.Asn962=
ENST00000575318.6:c.2697C>T	ENSP00000461299.1:p.Asn899=
ENST00000638275.1:c.2697C>T	ENSP00000492576.1:p.Asn899=
ENST00000638291.1:n.717C>T
ENST00000638551.1:n.837C>T
ENST00000639467.1:c.546C>T	ENSP00000492741.1:p.Asn182=
ENST00000639805.1:n.306C>T
ENST00000648792.1:c.2838-81C>T	ENSP00000497628.1:n.2838-81C>T
ENST00000262419.10:c.2889C>T	ENSP00000262419.6:p.Asn963=
ENST00000432791.5:c.2886C>T	ENSP00000387393.2:p.Asn962=
ENST00000572218.5:n.7106C>T
ENST00000572904.5:c.2889C>T	ENSP00000461484.1:p.Asn963=
ENST00000573682.1:n.275C>T
ENST00000574590.5:c.2889C>T	ENSP00000461812.1:p.Asn963=
ENST00000574963.1:n.319C>T
ENST00000575318.5:c.2697C>T	ENSP00000461299.1:p.Asn899=
ENST00000576870.5:n.861C>T
NM_001193465.1:c.2886C>T	NP_001180394.1:p.Asn962=
NM_001193466.1:c.2889C>T	NP_001180395.1:p.Asn963=
NM_015443.3:c.2889C>T	NP_056258.1:p.Asn963=
XM_006721823.1:c.2889C>T	XP_006721886.1:p.Asn963=
XM_006721824.2:c.2889C>T	XP_006721887.1:p.Asn963=
XM_011524628.1:c.2886C>T	XP_011522930.1:p.Asn962=
XM_011524629.1:c.2787C>T	XP_011522931.1:p.Asn929=
XM_011524630.1:c.2700C>T	XP_011522932.1:p.Asn900=
XM_011524631.1:c.2697C>T	XP_011522933.1:p.Asn899=
XM_011524632.1:c.1659C>T	XP_011522934.1:p.Asn553=
XM_006721823.2:c.2889C>T	XP_006721886.1:p.Asn963=
XM_006721824.4:c.2889C>T	XP_006721887.1:p.Asn963=
XM_011524628.3:c.2886C>T	XP_011522930.1:p.Asn962=
XM_011524629.3:c.2787C>T	XP_011522931.1:p.Asn929=
XM_011524630.3:c.2700C>T	XP_011522932.1:p.Asn900=
XM_011524631.3:c.2697C>T	XP_011522933.1:p.Asn899=
XM_011524632.3:c.1659C>T	XP_011522934.1:p.Asn553=
XM_017024488.2:c.2697C>T	XP_016879977.1:p.Asn899=
NM_001193466.2:c.2889C>T	NP_001180395.1:p.Asn963=
NM_015443.4:c.2889C>T MANE Select	NP_056258.1:p.Asn963=
NM_001193465.2:c.2886C>T	NP_001180394.1:p.Asn962=
NM_001379198.1:c.2889C>T	NP_001366127.1:p.Asn963=