Canonical Allele Identifier: CA403986322
Gene: KEAP1 HGNC NCBI

Linked Data

dbSNP Id: rs565878128

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10489760A>C , CM000681.2:g.10489760A>C GRCh38
NC_000019.9:g.10600436A>C , CM000681.1:g.10600436A>C GRCh37
NC_000019.8:g.10461436A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000171111.10:c.1419T>G MANE Select ENSP00000171111.4:p.Tyr473Ter
ENST00000171111.9:c.1419T>G ENSP00000171111.4:p.Tyr473Ter
ENST00000393623.6:c.1419T>G ENSP00000377245.1:p.Tyr473Ter
ENST00000590593.1:c.305-392T>G
ENST00000592478.5:c.238T>G
NM_012289.3:c.1419T>G NP_036421.2:p.Tyr473Ter
NM_203500.1:c.1419T>G NP_987096.1:p.Tyr473Ter
XM_005260173.1:c.1419T>G XP_005260230.1:p.Tyr473Ter
XM_005260174.1:c.1419T>G XP_005260231.1:p.Tyr473Ter
XM_011528452.1:c.1419T>G XP_011526754.1:p.Tyr473Ter
NM_203500.2:c.1419T>G MANE Select NP_987096.1:p.Tyr473Ter
NM_012289.4:c.1419T>G NP_036421.2:p.Tyr473Ter