Canonical Allele Identifier: CA399978970

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46170980-T-C
• MyVariant Identifiers: chr17:g.44248346T>C (hg19) ; chr17:g.46170980T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46170980T>C , CM000679.2:g.46170980T>C	GRCh38
NC_000017.10:g.44248346T>C , CM000679.1:g.44248346T>C	GRCh37
NC_000017.9:g.41604123T>C	NCBI36
NG_032784.1:g.59395A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.1164A>G MANE Select	ENSP00000387393.3:p.Ile388Met
ENST00000571698.2:c.1164A>G	ENSP00000459330.2:p.Ile388Met
ENST00000572904.6:c.1164A>G	ENSP00000461484.1:p.Ile388Met
ENST00000574590.6:c.1164A>G	ENSP00000461812.2:p.Ile388Met
ENST00000574655.6:n.1418A>G
ENST00000575318.6:c.1164A>G	ENSP00000461299.1:p.Ile388Met
ENST00000576248.2:n.244A>G
ENST00000638269.1:n.1408A>G
ENST00000638275.1:c.1164A>G	ENSP00000492576.1:p.Ile388Met
ENST00000638902.1:n.1268A>G
ENST00000639099.1:n.1414A>G
ENST00000639150.1:c.23+52691A>G	ENSP00000491906.1:n.23+52691A>G
ENST00000639356.1:n.1414A>G
ENST00000639375.1:n.1402A>G
ENST00000639531.1:c.1164A>G	ENSP00000491765.1:p.Ile388Met
ENST00000639853.1:c.437A>G
ENST00000648792.1:c.1164A>G	ENSP00000497628.1:p.Ile388Met
ENST00000262419.10:c.1164A>G	ENSP00000262419.6:p.Ile388Met
ENST00000432791.5:c.1164A>G	ENSP00000387393.2:p.Ile388Met
ENST00000572904.5:c.1164A>G	ENSP00000461484.1:p.Ile388Met
ENST00000574590.5:c.1164A>G	ENSP00000461812.1:p.Ile388Met
ENST00000575318.5:c.1164A>G	ENSP00000461299.1:p.Ile388Met
ENST00000576248.1:n.140A>G
NM_001193465.1:c.1164A>G	NP_001180394.1:p.Ile388Met
NM_001193466.1:c.1164A>G	NP_001180395.1:p.Ile388Met
NM_015443.3:c.1164A>G	NP_056258.1:p.Ile388Met
XM_006721823.1:c.1164A>G	XP_006721886.1:p.Ile388Met
XM_006721824.2:c.1164A>G	XP_006721887.1:p.Ile388Met
XM_011524628.1:c.1164A>G	XP_011522930.1:p.Ile388Met
XM_011524629.1:c.1164A>G	XP_011522931.1:p.Ile388Met
XM_011524630.1:c.1164A>G	XP_011522932.1:p.Ile388Met
XM_011524631.1:c.1164A>G	XP_011522933.1:p.Ile388Met
XM_006721823.2:c.1164A>G	XP_006721886.1:p.Ile388Met
XM_006721824.4:c.1164A>G	XP_006721887.1:p.Ile388Met
XM_011524628.3:c.1164A>G	XP_011522930.1:p.Ile388Met
XM_011524629.3:c.1164A>G	XP_011522931.1:p.Ile388Met
XM_011524630.3:c.1164A>G	XP_011522932.1:p.Ile388Met
XM_011524631.3:c.1164A>G	XP_011522933.1:p.Ile388Met
XM_017024488.2:c.1164A>G	XP_016879977.1:p.Ile388Met
XM_017024489.1:c.1164A>G	XP_016879978.1:p.Ile388Met
NM_001193466.2:c.1164A>G	NP_001180395.1:p.Ile388Met
NM_015443.4:c.1164A>G MANE Select	NP_056258.1:p.Ile388Met
NM_001193465.2:c.1164A>G	NP_001180394.1:p.Ile388Met
NM_001379198.1:c.1164A>G	NP_001366127.1:p.Ile388Met