Canonical Allele Identifier: CA9808805

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 338109
• ClinVar RCV Id: RCV000935758
• dbSNP Id: rs137912806
• ExAC: 20:31023893 C / T
• gnomAD v2: 20-31023893-C-T
• gnomAD v3: 20-32436090-C-T
• gnomAD v4: 20-32436090-C-T
• MyVariant Identifiers: chr20:g.31023893C>T (hg19) ; chr20:g.32436090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436090C>T , CM000682.2:g.32436090C>T	GRCh38
NC_000020.10:g.31023893C>T , CM000682.1:g.31023893C>T	GRCh37
NC_000020.9:g.30487554C>T	NCBI36
NG_027868.1:g.82747C>T , LRG_630:g.82747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3378C>T MANE Select	ENSP00000364839.4:p.His1126=
ENST00000646985.1:c.3195C>T	ENSP00000495053.1:p.His1065=
ENST00000647223.1:n.5731C>T
ENST00000651418.1:c.1869+1509C>T	ENSP00000499150.1:n.1869+1509C>T
ENST00000306058.9:c.3363C>T	ENSP00000305119.5:p.His1121=
ENST00000375687.8:c.3378C>T	ENSP00000364839.4:p.His1126=
ENST00000613218.4:c.3378C>T	ENSP00000480487.1:p.His1126=
ENST00000620121.4:c.3378C>T	ENSP00000481978.1:p.His1126=
NM_015338.5:c.3378C>T , LRG_630t1:c.3378C>T	NP_056153.2:p.His1126=
XM_006723727.2:c.3375C>T	XP_006723790.1:p.His1125=
XM_006723728.2:c.3348C>T	XP_006723791.1:p.His1116=
XM_006723730.2:c.3294C>T	XP_006723793.1:p.His1098=
XM_006723732.2:c.3195C>T	XP_006723795.1:p.His1065=
XM_006723733.1:c.2694C>T	XP_006723796.1:p.His898=
XM_011528647.1:c.3642C>T	XP_011526949.1:p.His1214=
XM_011528648.1:c.3639C>T	XP_011526950.1:p.His1213=
XM_011528649.1:c.3558C>T	XP_011526951.1:p.His1186=
XM_011528650.1:c.3489C>T	XP_011526952.1:p.His1163=
XM_011528651.1:c.3357C>T	XP_011526953.1:p.His1119=
XM_011528652.1:c.3294C>T	XP_011526954.1:p.His1098=
NM_001363734.1:c.3195C>T	NP_001350663.1:p.His1065=
XM_006723727.3:c.3375C>T	XP_006723790.1:p.His1125=
XM_006723728.3:c.3348C>T	XP_006723791.1:p.His1116=
XM_006723730.4:c.3294C>T	XP_006723793.1:p.His1098=
XM_011528648.3:c.3639C>T	XP_011526950.1:p.His1213=
XM_011528652.2:c.3294C>T	XP_011526954.1:p.His1098=
XM_017027704.1:c.3294C>T	XP_016883193.1:p.His1098=
XM_017027705.1:c.3294C>T	XP_016883194.1:p.His1098=
XM_017027706.1:c.3225C>T	XP_016883195.1:p.His1075=
NM_015338.6:c.3378C>T MANE Select	NP_056153.2:p.His1126=