Canonical Allele Identifier: CA16607297

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 387227
• ClinVar RCV Id: RCV000439074
• dbSNP Id: rs1057522732
• MyVariant Identifiers: chr17:g.44109468T>C (hg19) ; chr17:g.46032102T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032102T>C , CM000679.2:g.46032102T>C	GRCh38
NC_000017.10:g.44109468T>C , CM000679.1:g.44109468T>C	GRCh37
NC_000017.9:g.41465315T>C	NCBI36
NG_032784.1:g.198273A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3035A>G MANE Select	ENSP00000387393.3:p.His1012Arg
ENST00000572904.6:c.3035A>G	ENSP00000461484.1:p.His1012Arg
ENST00000574590.6:c.3032A>G	ENSP00000461812.2:p.His1011Arg
ENST00000575318.6:c.2843A>G	ENSP00000461299.1:p.His948Arg
ENST00000638275.1:c.2843A>G	ENSP00000492576.1:p.His948Arg
ENST00000639805.1:n.452A>G
ENST00000648792.1:c.2903A>G	ENSP00000497628.1:p.His968Arg
ENST00000262419.10:c.3035A>G	ENSP00000262419.6:p.His1012Arg
ENST00000432791.5:c.3032A>G	ENSP00000387393.2:p.His1011Arg
ENST00000572218.5:n.7252A>G
ENST00000572904.5:c.3035A>G	ENSP00000461484.1:p.His1012Arg
ENST00000574590.5:c.3035A>G	ENSP00000461812.1:p.His1012Arg
ENST00000574963.1:n.465A>G
ENST00000575318.5:c.2843A>G	ENSP00000461299.1:p.His948Arg
ENST00000576870.5:n.1007A>G
NM_001193465.1:c.3032A>G	NP_001180394.1:p.His1011Arg
NM_001193466.1:c.3035A>G	NP_001180395.1:p.His1012Arg
NM_015443.3:c.3035A>G	NP_056258.1:p.His1012Arg
XM_006721823.1:c.3035A>G	XP_006721886.1:p.His1012Arg
XM_006721824.2:c.3035A>G	XP_006721887.1:p.His1012Arg
XM_011524628.1:c.3032A>G	XP_011522930.1:p.His1011Arg
XM_011524629.1:c.2933A>G	XP_011522931.1:p.His978Arg
XM_011524630.1:c.2846A>G	XP_011522932.1:p.His949Arg
XM_011524631.1:c.2843A>G	XP_011522933.1:p.His948Arg
XM_011524632.1:c.1805A>G	XP_011522934.1:p.His602Arg
XM_006721823.2:c.3035A>G	XP_006721886.1:p.His1012Arg
XM_006721824.4:c.3035A>G	XP_006721887.1:p.His1012Arg
XM_011524628.3:c.3032A>G	XP_011522930.1:p.His1011Arg
XM_011524629.3:c.2933A>G	XP_011522931.1:p.His978Arg
XM_011524630.3:c.2846A>G	XP_011522932.1:p.His949Arg
XM_011524631.3:c.2843A>G	XP_011522933.1:p.His948Arg
XM_011524632.3:c.1805A>G	XP_011522934.1:p.His602Arg
XM_017024488.2:c.2843A>G	XP_016879977.1:p.His948Arg
NM_001193466.2:c.3035A>G	NP_001180395.1:p.His1012Arg
NM_015443.4:c.3035A>G MANE Select	NP_056258.1:p.His1012Arg
NM_001193465.2:c.3032A>G	NP_001180394.1:p.His1011Arg
NM_001379198.1:c.3035A>G	NP_001366127.1:p.His1012Arg