Canonical Allele Identifier: CA291108148

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 1667075
• ClinVar RCV Id: RCV002195689
• dbSNP Id: rs200086055
• gnomAD v4: 17-46038629-G-C
• MyVariant Identifiers: chr17:g.44115995G>C (hg19) ; chr17:g.46038629G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038629G>C , CM000679.2:g.46038629G>C	GRCh38
NC_000017.10:g.44115995G>C , CM000679.1:g.44115995G>C	GRCh37
NC_000017.9:g.41471842G>C	NCBI36
NG_032784.1:g.191746C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2450C>G MANE Select	ENSP00000387393.3:p.Pro817Arg
ENST00000572904.6:c.2450C>G	ENSP00000461484.1:p.Pro817Arg
ENST00000573286.2:n.4133C>G
ENST00000574590.6:c.2450C>G	ENSP00000461812.2:p.Pro817Arg
ENST00000575318.6:c.2261C>G	ENSP00000461299.1:p.Pro754Arg
ENST00000576137.2:n.447C>G
ENST00000638275.1:c.2261C>G	ENSP00000492576.1:p.Pro754Arg
ENST00000639150.1:c.1184C>G	ENSP00000491906.1:p.Pro395Arg
ENST00000639467.1:c.113C>G	ENSP00000492741.1:p.Pro38Arg
ENST00000639531.1:c.2261C>G	ENSP00000491765.1:p.Pro754Arg
ENST00000640636.1:c.403C>G
ENST00000648792.1:c.2450C>G	ENSP00000497628.1:p.Pro817Arg
ENST00000262419.10:c.2450C>G	ENSP00000262419.6:p.Pro817Arg
ENST00000432791.5:c.2450C>G	ENSP00000387393.2:p.Pro817Arg
ENST00000572218.5:n.6667C>G
ENST00000572904.5:c.2450C>G	ENSP00000461484.1:p.Pro817Arg
ENST00000573286.1:n.306C>G
ENST00000574590.5:c.2450C>G	ENSP00000461812.1:p.Pro817Arg
ENST00000575318.5:c.2261C>G	ENSP00000461299.1:p.Pro754Arg
ENST00000576137.1:n.89C>G
ENST00000576870.5:n.422C>G
NM_001193465.1:c.2450C>G	NP_001180394.1:p.Pro817Arg
NM_001193466.1:c.2450C>G	NP_001180395.1:p.Pro817Arg
NM_015443.3:c.2450C>G	NP_056258.1:p.Pro817Arg
XM_006721823.1:c.2450C>G	XP_006721886.1:p.Pro817Arg
XM_006721824.2:c.2450C>G	XP_006721887.1:p.Pro817Arg
XM_011524628.1:c.2450C>G	XP_011522930.1:p.Pro817Arg
XM_011524629.1:c.2348C>G	XP_011522931.1:p.Pro783Arg
XM_011524630.1:c.2261C>G	XP_011522932.1:p.Pro754Arg
XM_011524631.1:c.2261C>G	XP_011522933.1:p.Pro754Arg
XM_011524632.1:c.1220C>G	XP_011522934.1:p.Pro407Arg
XM_006721823.2:c.2450C>G	XP_006721886.1:p.Pro817Arg
XM_006721824.4:c.2450C>G	XP_006721887.1:p.Pro817Arg
XM_011524628.3:c.2450C>G	XP_011522930.1:p.Pro817Arg
XM_011524629.3:c.2348C>G	XP_011522931.1:p.Pro783Arg
XM_011524630.3:c.2261C>G	XP_011522932.1:p.Pro754Arg
XM_011524631.3:c.2261C>G	XP_011522933.1:p.Pro754Arg
XM_011524632.3:c.1220C>G	XP_011522934.1:p.Pro407Arg
XM_017024488.2:c.2261C>G	XP_016879977.1:p.Pro754Arg
XM_017024489.1:c.2348C>G	XP_016879978.1:p.Pro783Arg
NM_001193466.2:c.2450C>G	NP_001180395.1:p.Pro817Arg
NM_015443.4:c.2450C>G MANE Select	NP_056258.1:p.Pro817Arg
NM_001193465.2:c.2450C>G	NP_001180394.1:p.Pro817Arg
NM_001379198.1:c.2450C>G	NP_001366127.1:p.Pro817Arg