Canonical Allele Identifier: CA403986448
Gene: KEAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2144590592

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10489776A>T , CM000681.2:g.10489776A>T GRCh38
NC_000019.9:g.10600452A>T , CM000681.1:g.10600452A>T GRCh37
NC_000019.8:g.10461452A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000171111.10:c.1403T>A MANE Select ENSP00000171111.4:p.Leu468His
ENST00000171111.9:c.1403T>A ENSP00000171111.4:p.Leu468His
ENST00000393623.6:c.1403T>A ENSP00000377245.1:p.Leu468His
ENST00000590593.1:c.305-408T>A
ENST00000592478.5:c.222T>A
NM_012289.3:c.1403T>A NP_036421.2:p.Leu468His
NM_203500.1:c.1403T>A NP_987096.1:p.Leu468His
XM_005260173.1:c.1403T>A XP_005260230.1:p.Leu468His
XM_005260174.1:c.1403T>A XP_005260231.1:p.Leu468His
XM_011528452.1:c.1403T>A XP_011526754.1:p.Leu468His
NM_203500.2:c.1403T>A MANE Select NP_987096.1:p.Leu468His
NM_012289.4:c.1403T>A NP_036421.2:p.Leu468His