Canonical Allele Identifier: CA10208662

Gene: APOL1

Linked Data

• ClinVar Variation Id: 1484574
• ClinVar RCV Id: RCV002005903
• dbSNP Id: rs769135730
• ExAC: 22:36661205 C / A
• gnomAD v2: 22-36661205-C-A
• gnomAD v3: 22-36265159-C-A
• gnomAD v4: 22-36265159-C-A
• MyVariant Identifiers: chr22:g.36661205C>A (hg19) ; chr22:g.36265159C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36265159C>A , CM000684.2:g.36265159C>A	GRCh38
NC_000022.10:g.36661205C>A , CM000684.1:g.36661205C>A	GRCh37
NC_000022.9:g.34991151C>A	NCBI36
NG_023228.1:g.17089C>A , LRG_169:g.17089C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427990.6:c.323C>A	ENSP00000391302.2:p.Ala108Glu
ENST00000433768.6:c.*85C>A	ENSP00000392514.1:n.*85C>A
ENST00000438034.6:c.410C>A	ENSP00000404525.2:p.Ala137Glu
ENST00000397278.8:c.323C>A MANE Select	ENSP00000380448.4:p.Ala108Glu
ENST00000319136.8:c.371C>A	ENSP00000317674.4:p.Ala124Glu
ENST00000397278.7:c.323C>A	ENSP00000380448.3:p.Ala108Glu
ENST00000397279.8:c.323C>A	ENSP00000380449.4:p.Ala108Glu
ENST00000422706.5:c.323C>A	ENSP00000411507.1:p.Ala108Glu
ENST00000426053.5:c.269C>A	ENSP00000388477.1:p.Ala90Glu
ENST00000427990.5:c.323C>A	ENSP00000391302.1:p.Ala108Glu
NM_001136540.1:c.323C>A	NP_001130012.1:p.Ala108Glu
NM_001136541.1:c.269C>A	NP_001130013.1:p.Ala90Glu
NM_003661.3:c.323C>A	NP_003652.2:p.Ala108Glu
NM_145343.2:c.371C>A , LRG_169t1:c.371C>A	NP_663318.1:p.Ala124Glu
XM_005261796.2:c.269C>A	XP_005261853.1:p.Ala90Glu
XM_011530478.1:c.-41C>A	XP_011528780.1:n.-41C>A
NM_001362927.1:c.269C>A	NP_001349856.1:p.Ala90Glu
XM_011530478.2:c.-41C>A	XP_011528780.1:n.-41C>A
NM_001362927.2:c.269C>A	NP_001349856.1:p.Ala90Glu
NM_003661.4:c.323C>A MANE Select	NP_003652.2:p.Ala108Glu
NM_001136540.2:c.323C>A	NP_001130012.1:p.Ala108Glu
NM_001136541.2:c.269C>A	NP_001130013.1:p.Ala90Glu
NM_145343.3:c.371C>A	NP_663318.1:p.Ala124Glu