Canonical Allele Identifier: CA403983744

Gene: KEAP1

Linked Data

• ClinVar Variation Id: 1321233
• ClinVar RCV Id: RCV001777193
• dbSNP Id: rs2144585858
• COSMIC: COSM6149754
• MyVariant Identifiers: chr19:g.10599866A>T (hg19) ; chr19:g.10489190A>T (hg38)
• MutSpliceDB: CA403983744

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10489190A>T , CM000681.2:g.10489190A>T	GRCh38
NC_000019.9:g.10599866A>T , CM000681.1:g.10599866A>T	GRCh37
NC_000019.8:g.10460866A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000171111.10:c.1708+2T>A MANE Select	ENSP00000171111.4:n.1708+2T>A
ENST00000171111.9:c.1708+2T>A	ENSP00000171111.4:n.1708+2T>A
ENST00000393623.6:c.1708+2T>A	ENSP00000377245.1:n.1708+2T>A
ENST00000590237.1:n.244+2T>A
ENST00000590593.1:c.481+2T>A
ENST00000592478.5:c.350+458T>A
NM_012289.3:c.1708+2T>A	NP_036421.2:n.1708+2T>A
NM_203500.1:c.1708+2T>A	NP_987096.1:n.1708+2T>A
XM_005260173.1:c.1708+2T>A	XP_005260230.1:n.1708+2T>A
XM_005260174.1:c.1708+2T>A	XP_005260231.1:n.1708+2T>A
XM_011528452.1:c.1708+2T>A	XP_011526754.1:n.1708+2T>A
NM_203500.2:c.1708+2T>A MANE Select	NP_987096.1:n.1708+2T>A
NM_012289.4:c.1708+2T>A	NP_036421.2:n.1708+2T>A