Canonical Allele Identifier: CA399986602

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 2791402
• ClinVar RCV Id: RCV003643264
• MyVariant Identifiers: chr17:g.44143998C>G (hg19) ; chr17:g.46066632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46066632C>G , CM000679.2:g.46066632C>G	GRCh38
NC_000017.10:g.44143998C>G , CM000679.1:g.44143998C>G	GRCh37
NC_000017.9:g.41499820C>G	NCBI36
NG_032784.1:g.163743G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.1753G>C MANE Select	ENSP00000387393.3:p.Asp585His
ENST00000571698.2:c.1753G>C	ENSP00000459330.2:p.Asp585His
ENST00000572904.6:c.1753G>C	ENSP00000461484.1:p.Asp585His
ENST00000574590.6:c.1753G>C	ENSP00000461812.2:p.Asp585His
ENST00000575318.6:c.1753G>C	ENSP00000461299.1:p.Asp585His
ENST00000577114.2:n.479G>C
ENST00000638275.1:c.1753G>C	ENSP00000492576.1:p.Asp585His
ENST00000639150.1:c.487G>C	ENSP00000491906.1:p.Asp163His
ENST00000639375.1:n.1991G>C
ENST00000639531.1:c.1753G>C	ENSP00000491765.1:p.Asp585His
ENST00000639853.1:c.924G>C
ENST00000648792.1:c.1753G>C	ENSP00000497628.1:p.Asp585His
ENST00000262419.10:c.1753G>C	ENSP00000262419.6:p.Asp585His
ENST00000432791.5:c.1753G>C	ENSP00000387393.2:p.Asp585His
ENST00000572904.5:c.1753G>C	ENSP00000461484.1:p.Asp585His
ENST00000574590.5:c.1753G>C	ENSP00000461812.1:p.Asp585His
ENST00000575318.5:c.1753G>C	ENSP00000461299.1:p.Asp585His
ENST00000577114.1:n.550G>C
NM_001193465.1:c.1753G>C	NP_001180394.1:p.Asp585His
NM_001193466.1:c.1753G>C	NP_001180395.1:p.Asp585His
NM_015443.3:c.1753G>C	NP_056258.1:p.Asp585His
XM_006721823.1:c.1753G>C	XP_006721886.1:p.Asp585His
XM_006721824.2:c.1753G>C	XP_006721887.1:p.Asp585His
XM_011524628.1:c.1753G>C	XP_011522930.1:p.Asp585His
XM_011524629.1:c.1651G>C	XP_011522931.1:p.Asp551His
XM_011524630.1:c.1753G>C	XP_011522932.1:p.Asp585His
XM_011524631.1:c.1753G>C	XP_011522933.1:p.Asp585His
XM_011524632.1:c.523G>C	XP_011522934.1:p.Asp175His
XM_006721823.2:c.1753G>C	XP_006721886.1:p.Asp585His
XM_006721824.4:c.1753G>C	XP_006721887.1:p.Asp585His
XM_011524628.3:c.1753G>C	XP_011522930.1:p.Asp585His
XM_011524629.3:c.1651G>C	XP_011522931.1:p.Asp551His
XM_011524630.3:c.1753G>C	XP_011522932.1:p.Asp585His
XM_011524631.3:c.1753G>C	XP_011522933.1:p.Asp585His
XM_011524632.3:c.523G>C	XP_011522934.1:p.Asp175His
XM_017024488.2:c.1753G>C	XP_016879977.1:p.Asp585His
XM_017024489.1:c.1651G>C	XP_016879978.1:p.Asp551His
NM_001193466.2:c.1753G>C	NP_001180395.1:p.Asp585His
NM_015443.4:c.1753G>C MANE Select	NP_056258.1:p.Asp585His
NM_001193465.2:c.1753G>C	NP_001180394.1:p.Asp585His
NM_001379198.1:c.1753G>C	NP_001366127.1:p.Asp585His