Canonical Allele Identifier: CA399987345

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46032289-A-C
• MyVariant Identifiers: chr17:g.44109655A>C (hg19) ; chr17:g.46032289A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032289A>C , CM000679.2:g.46032289A>C	GRCh38
NC_000017.10:g.44109655A>C , CM000679.1:g.44109655A>C	GRCh37
NC_000017.9:g.41465502A>C	NCBI36
NG_032784.1:g.198086T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2848T>G MANE Select	ENSP00000387393.3:p.Ser950Ala
ENST00000572904.6:c.2848T>G	ENSP00000461484.1:p.Ser950Ala
ENST00000574590.6:c.2845T>G	ENSP00000461812.2:p.Ser949Ala
ENST00000575318.6:c.2656T>G	ENSP00000461299.1:p.Ser886Ala
ENST00000638275.1:c.2656T>G	ENSP00000492576.1:p.Ser886Ala
ENST00000638291.1:n.676T>G
ENST00000638551.1:n.796T>G
ENST00000639467.1:c.505T>G	ENSP00000492741.1:p.Ser169Ala
ENST00000639531.1:c.2659T>G	ENSP00000491765.1:p.Ser887Ala
ENST00000639805.1:n.265T>G
ENST00000640751.1:n.443T>G
ENST00000648792.1:c.2838-122T>G	ENSP00000497628.1:n.2838-122T>G
ENST00000262419.10:c.2848T>G	ENSP00000262419.6:p.Ser950Ala
ENST00000432791.5:c.2845T>G	ENSP00000387393.2:p.Ser949Ala
ENST00000572218.5:n.7065T>G
ENST00000572904.5:c.2848T>G	ENSP00000461484.1:p.Ser950Ala
ENST00000573682.1:n.234T>G
ENST00000574590.5:c.2848T>G	ENSP00000461812.1:p.Ser950Ala
ENST00000574963.1:n.278T>G
ENST00000575318.5:c.2656T>G	ENSP00000461299.1:p.Ser886Ala
ENST00000576870.5:n.820T>G
NM_001193465.1:c.2845T>G	NP_001180394.1:p.Ser949Ala
NM_001193466.1:c.2848T>G	NP_001180395.1:p.Ser950Ala
NM_015443.3:c.2848T>G	NP_056258.1:p.Ser950Ala
XM_006721823.1:c.2848T>G	XP_006721886.1:p.Ser950Ala
XM_006721824.2:c.2848T>G	XP_006721887.1:p.Ser950Ala
XM_011524628.1:c.2845T>G	XP_011522930.1:p.Ser949Ala
XM_011524629.1:c.2746T>G	XP_011522931.1:p.Ser916Ala
XM_011524630.1:c.2659T>G	XP_011522932.1:p.Ser887Ala
XM_011524631.1:c.2656T>G	XP_011522933.1:p.Ser886Ala
XM_011524632.1:c.1618T>G	XP_011522934.1:p.Ser540Ala
XM_006721823.2:c.2848T>G	XP_006721886.1:p.Ser950Ala
XM_006721824.4:c.2848T>G	XP_006721887.1:p.Ser950Ala
XM_011524628.3:c.2845T>G	XP_011522930.1:p.Ser949Ala
XM_011524629.3:c.2746T>G	XP_011522931.1:p.Ser916Ala
XM_011524630.3:c.2659T>G	XP_011522932.1:p.Ser887Ala
XM_011524631.3:c.2656T>G	XP_011522933.1:p.Ser886Ala
XM_011524632.3:c.1618T>G	XP_011522934.1:p.Ser540Ala
XM_017024488.2:c.2656T>G	XP_016879977.1:p.Ser886Ala
NM_001193466.2:c.2848T>G	NP_001180395.1:p.Ser950Ala
NM_015443.4:c.2848T>G MANE Select	NP_056258.1:p.Ser950Ala
NM_001193465.2:c.2845T>G	NP_001180394.1:p.Ser949Ala
NM_001379198.1:c.2848T>G	NP_001366127.1:p.Ser950Ala