Canonical Allele Identifier: CA9808961

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2899800
• ClinVar RCV Id: RCV003739818
• dbSNP Id: rs370377167
• ExAC: 20:31024598 T / C
• gnomAD v3: 20-32436795-T-C
• gnomAD v4: 20-32436795-T-C
• MyVariant Identifiers: chr20:g.31024598T>C (hg19) ; chr20:g.32436795T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436795T>C , CM000682.2:g.32436795T>C	GRCh38
NC_000020.10:g.31024598T>C , CM000682.1:g.31024598T>C	GRCh37
NC_000020.9:g.30488259T>C	NCBI36
NG_027868.1:g.83452T>C , LRG_630:g.83452T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4083T>C MANE Select	ENSP00000364839.4:p.His1361=
ENST00000646985.1:c.3900T>C	ENSP00000495053.1:p.His1300=
ENST00000647223.1:n.6436T>C
ENST00000651418.1:c.1870-1635T>C	ENSP00000499150.1:n.1870-1635T>C
ENST00000306058.9:c.4068T>C	ENSP00000305119.5:p.His1356=
ENST00000375687.8:c.4083T>C	ENSP00000364839.4:p.His1361=
ENST00000613218.4:c.4083T>C	ENSP00000480487.1:p.His1361=
ENST00000620121.4:c.4083T>C	ENSP00000481978.1:p.His1361=
NM_015338.5:c.4083T>C , LRG_630t1:c.4083T>C	NP_056153.2:p.His1361=
XM_006723727.2:c.4080T>C	XP_006723790.1:p.His1360=
XM_006723728.2:c.4053T>C	XP_006723791.1:p.His1351=
XM_006723730.2:c.3999T>C	XP_006723793.1:p.His1333=
XM_006723732.2:c.3900T>C	XP_006723795.1:p.His1300=
XM_006723733.1:c.3399T>C	XP_006723796.1:p.His1133=
XM_011528647.1:c.4347T>C	XP_011526949.1:p.His1449=
XM_011528648.1:c.4344T>C	XP_011526950.1:p.His1448=
XM_011528649.1:c.4263T>C	XP_011526951.1:p.His1421=
XM_011528650.1:c.4194T>C	XP_011526952.1:p.His1398=
XM_011528651.1:c.4062T>C	XP_011526953.1:p.His1354=
XM_011528652.1:c.3999T>C	XP_011526954.1:p.His1333=
NM_001363734.1:c.3900T>C	NP_001350663.1:p.His1300=
XM_006723727.3:c.4080T>C	XP_006723790.1:p.His1360=
XM_006723728.3:c.4053T>C	XP_006723791.1:p.His1351=
XM_006723730.4:c.3999T>C	XP_006723793.1:p.His1333=
XM_011528648.3:c.4344T>C	XP_011526950.1:p.His1448=
XM_011528652.2:c.3999T>C	XP_011526954.1:p.His1333=
XM_017027704.1:c.3999T>C	XP_016883193.1:p.His1333=
XM_017027705.1:c.3999T>C	XP_016883194.1:p.His1333=
XM_017027706.1:c.3930T>C	XP_016883195.1:p.His1310=
NM_015338.6:c.4083T>C MANE Select	NP_056153.2:p.His1361=