Canonical Allele Identifier: CA403985832
Gene: KEAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2144589901

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10489711A>G , CM000681.2:g.10489711A>G GRCh38
NC_000019.9:g.10600387A>G , CM000681.1:g.10600387A>G GRCh37
NC_000019.8:g.10461387A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000171111.10:c.1468T>C MANE Select ENSP00000171111.4:p.Tyr490His
ENST00000171111.9:c.1468T>C ENSP00000171111.4:p.Tyr490His
ENST00000393623.6:c.1468T>C ENSP00000377245.1:p.Tyr490His
ENST00000590593.1:c.305-343T>C
ENST00000592478.5:c.287T>C
NM_012289.3:c.1468T>C NP_036421.2:p.Tyr490His
NM_203500.1:c.1468T>C NP_987096.1:p.Tyr490His
XM_005260173.1:c.1468T>C XP_005260230.1:p.Tyr490His
XM_005260174.1:c.1468T>C XP_005260231.1:p.Tyr490His
XM_011528452.1:c.1468T>C XP_011526754.1:p.Tyr490His
NM_203500.2:c.1468T>C MANE Select NP_987096.1:p.Tyr490His
NM_012289.4:c.1468T>C NP_036421.2:p.Tyr490His