Canonical Allele Identifier: CA399985452

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 2710685
• ClinVar RCV Id: RCV003528962
• dbSNP Id: rs1372183525
• gnomAD v2: 17-44108859-G-A
• gnomAD v3: 17-46031493-G-A
• gnomAD v4: 17-46031493-G-A
• MyVariant Identifiers: chr17:g.44108859G>A (hg19) ; chr17:g.46031493G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031493G>A , CM000679.2:g.46031493G>A	GRCh38
NC_000017.10:g.44108859G>A , CM000679.1:g.44108859G>A	GRCh37
NC_000017.9:g.41464706G>A	NCBI36
NG_032784.1:g.198882C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.3301C>T MANE Select	ENSP00000387393.3:p.Arg1101Cys
ENST00000572904.6:c.3301C>T	ENSP00000461484.1:p.Arg1101Cys
ENST00000574590.6:c.3298C>T	ENSP00000461812.2:p.Arg1100Cys
ENST00000575318.6:c.3109C>T	ENSP00000461299.1:p.Arg1037Cys
ENST00000638275.1:c.3109C>T	ENSP00000492576.1:p.Arg1037Cys
ENST00000648792.1:c.3169C>T	ENSP00000497628.1:p.Arg1057Cys
ENST00000262419.10:c.3301C>T	ENSP00000262419.6:p.Arg1101Cys
ENST00000432791.5:c.3298C>T	ENSP00000387393.2:p.Arg1100Cys
ENST00000572218.5:n.7518C>T
ENST00000572904.5:c.3301C>T	ENSP00000461484.1:p.Arg1101Cys
ENST00000574590.5:c.3301C>T	ENSP00000461812.1:p.Arg1101Cys
ENST00000574963.1:n.1074C>T
ENST00000575318.5:c.3109C>T	ENSP00000461299.1:p.Arg1037Cys
ENST00000576870.5:n.1273C>T
NM_001193465.1:c.3298C>T	NP_001180394.1:p.Arg1100Cys
NM_001193466.1:c.3301C>T	NP_001180395.1:p.Arg1101Cys
NM_015443.3:c.3301C>T	NP_056258.1:p.Arg1101Cys
XM_006721823.1:c.3301C>T	XP_006721886.1:p.Arg1101Cys
XM_006721824.2:c.3301C>T	XP_006721887.1:p.Arg1101Cys
XM_011524628.1:c.3298C>T	XP_011522930.1:p.Arg1100Cys
XM_011524629.1:c.3199C>T	XP_011522931.1:p.Arg1067Cys
XM_011524630.1:c.3112C>T	XP_011522932.1:p.Arg1038Cys
XM_011524631.1:c.3109C>T	XP_011522933.1:p.Arg1037Cys
XM_011524632.1:c.2071C>T	XP_011522934.1:p.Arg691Cys
XM_006721823.2:c.3301C>T	XP_006721886.1:p.Arg1101Cys
XM_006721824.4:c.3301C>T	XP_006721887.1:p.Arg1101Cys
XM_011524628.3:c.3298C>T	XP_011522930.1:p.Arg1100Cys
XM_011524629.3:c.3199C>T	XP_011522931.1:p.Arg1067Cys
XM_011524630.3:c.3112C>T	XP_011522932.1:p.Arg1038Cys
XM_011524631.3:c.3109C>T	XP_011522933.1:p.Arg1037Cys
XM_011524632.3:c.2071C>T	XP_011522934.1:p.Arg691Cys
XM_017024488.2:c.3109C>T	XP_016879977.1:p.Arg1037Cys
NM_001193466.2:c.3301C>T	NP_001180395.1:p.Arg1101Cys
NM_015443.4:c.3301C>T MANE Select	NP_056258.1:p.Arg1101Cys
NM_001193465.2:c.3298C>T	NP_001180394.1:p.Arg1100Cys
NM_001379198.1:c.3301C>T	NP_001366127.1:p.Arg1101Cys