Canonical Allele Identifier: CA8618408

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 385906
• ClinVar RCV Id: RCV000427339 ; RCV002502551
• dbSNP Id: rs371484505
• ExAC: 17:44109518 C / T
• gnomAD v2: 17-44109518-C-T
• gnomAD v3: 17-46032152-C-T
• gnomAD v4: 17-46032152-C-T
• MyVariant Identifiers: chr17:g.44109518C>T (hg19) ; chr17:g.46032152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032152C>T , CM000679.2:g.46032152C>T	GRCh38
NC_000017.10:g.44109518C>T , CM000679.1:g.44109518C>T	GRCh37
NC_000017.9:g.41465365C>T	NCBI36
NG_032784.1:g.198223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2985G>A MANE Select	ENSP00000387393.3:p.Pro995=
ENST00000572904.6:c.2985G>A	ENSP00000461484.1:p.Pro995=
ENST00000574590.6:c.2982G>A	ENSP00000461812.2:p.Pro994=
ENST00000575318.6:c.2793G>A	ENSP00000461299.1:p.Pro931=
ENST00000638275.1:c.2793G>A	ENSP00000492576.1:p.Pro931=
ENST00000639467.1:c.642G>A	ENSP00000492741.1:p.Pro214=
ENST00000639805.1:n.402G>A
ENST00000648792.1:c.2853G>A	ENSP00000497628.1:p.Pro951=
ENST00000262419.10:c.2985G>A	ENSP00000262419.6:p.Pro995=
ENST00000432791.5:c.2982G>A	ENSP00000387393.2:p.Pro994=
ENST00000572218.5:n.7202G>A
ENST00000572904.5:c.2985G>A	ENSP00000461484.1:p.Pro995=
ENST00000574590.5:c.2985G>A	ENSP00000461812.1:p.Pro995=
ENST00000574963.1:n.415G>A
ENST00000575318.5:c.2793G>A	ENSP00000461299.1:p.Pro931=
ENST00000576870.5:n.957G>A
NM_001193465.1:c.2982G>A	NP_001180394.1:p.Pro994=
NM_001193466.1:c.2985G>A	NP_001180395.1:p.Pro995=
NM_015443.3:c.2985G>A	NP_056258.1:p.Pro995=
XM_006721823.1:c.2985G>A	XP_006721886.1:p.Pro995=
XM_006721824.2:c.2985G>A	XP_006721887.1:p.Pro995=
XM_011524628.1:c.2982G>A	XP_011522930.1:p.Pro994=
XM_011524629.1:c.2883G>A	XP_011522931.1:p.Pro961=
XM_011524630.1:c.2796G>A	XP_011522932.1:p.Pro932=
XM_011524631.1:c.2793G>A	XP_011522933.1:p.Pro931=
XM_011524632.1:c.1755G>A	XP_011522934.1:p.Pro585=
XM_006721823.2:c.2985G>A	XP_006721886.1:p.Pro995=
XM_006721824.4:c.2985G>A	XP_006721887.1:p.Pro995=
XM_011524628.3:c.2982G>A	XP_011522930.1:p.Pro994=
XM_011524629.3:c.2883G>A	XP_011522931.1:p.Pro961=
XM_011524630.3:c.2796G>A	XP_011522932.1:p.Pro932=
XM_011524631.3:c.2793G>A	XP_011522933.1:p.Pro931=
XM_011524632.3:c.1755G>A	XP_011522934.1:p.Pro585=
XM_017024488.2:c.2793G>A	XP_016879977.1:p.Pro931=
NM_001193466.2:c.2985G>A	NP_001180395.1:p.Pro995=
NM_015443.4:c.2985G>A MANE Select	NP_056258.1:p.Pro995=
NM_001193465.2:c.2982G>A	NP_001180394.1:p.Pro994=
NM_001379198.1:c.2985G>A	NP_001366127.1:p.Pro995=