Canonical Allele Identifier: CA10649521

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 323752
• ClinVar RCV Id: RCV000267515
• dbSNP Id: rs17574361
• gnomAD v2: 17-44108202-A-G
• gnomAD v3: 17-46030836-A-G
• gnomAD v4: 17-46030836-A-G
• MyVariant Identifiers: chr17:g.44108202A>G (hg19) ; chr17:g.46030836A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46030836A>G , CM000679.2:g.46030836A>G	GRCh38
NC_000017.10:g.44108202A>G , CM000679.1:g.44108202A>G	GRCh37
NC_000017.9:g.41464049A>G	NCBI36
NG_032784.1:g.199539T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.*640T>C MANE Select	ENSP00000387393.3:n.*640T>C
ENST00000572904.6:c.*640T>C	ENSP00000461484.1:n.*640T>C
ENST00000574590.6:c.*640T>C	ENSP00000461812.2:n.*640T>C
ENST00000575318.6:c.*640T>C	ENSP00000461299.1:n.*640T>C
ENST00000638275.1:c.*640T>C	ENSP00000492576.1:n.*640T>C
ENST00000648792.1:c.*640T>C	ENSP00000497628.1:n.*640T>C
ENST00000262419.10:c.*640T>C	ENSP00000262419.6:n.*640T>C
ENST00000432791.5:c.*640T>C	ENSP00000387393.2:n.*640T>C
ENST00000572218.5:n.8175T>C
ENST00000572904.5:c.*640T>C	ENSP00000461484.1:n.*640T>C
ENST00000574590.5:c.*640T>C	ENSP00000461812.1:n.*640T>C
ENST00000575318.5:c.*640T>C	ENSP00000461299.1:n.*640T>C
ENST00000576870.5:n.1930T>C
NM_001193465.1:c.*640T>C	NP_001180394.1:n.*640T>C
NM_001193466.1:c.*640T>C	NP_001180395.1:n.*640T>C
NM_015443.3:c.*640T>C	NP_056258.1:n.*640T>C
XM_006721823.1:c.*640T>C	XP_006721886.1:n.*640T>C
XM_006721824.2:c.*640T>C	XP_006721887.1:n.*640T>C
XM_011524628.1:c.*640T>C	XP_011522930.1:n.*640T>C
XM_011524629.1:c.*640T>C	XP_011522931.1:n.*640T>C
XM_011524630.1:c.*640T>C	XP_011522932.1:n.*640T>C
XM_011524631.1:c.*640T>C	XP_011522933.1:n.*640T>C
XM_011524632.1:c.*640T>C	XP_011522934.1:n.*640T>C
XM_006721823.2:c.*640T>C	XP_006721886.1:n.*640T>C
XM_006721824.4:c.*640T>C	XP_006721887.1:n.*640T>C
XM_011524628.3:c.*640T>C	XP_011522930.1:n.*640T>C
XM_011524629.3:c.*640T>C	XP_011522931.1:n.*640T>C
XM_011524630.3:c.*640T>C	XP_011522932.1:n.*640T>C
XM_011524631.3:c.*640T>C	XP_011522933.1:n.*640T>C
XM_011524632.3:c.*640T>C	XP_011522934.1:n.*640T>C
XM_017024488.2:c.*640T>C	XP_016879977.1:n.*640T>C
NM_001193466.2:c.*640T>C	NP_001180395.1:n.*640T>C
NM_015443.4:c.*640T>C MANE Select	NP_056258.1:n.*640T>C
NM_001193465.2:c.*640T>C	NP_001180394.1:n.*640T>C
NM_001379198.1:c.*640T>C	NP_001366127.1:n.*640T>C