Canonical Allele Identifier: CA403986318
Gene: KEAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1914604657

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10489759C>T , CM000681.2:g.10489759C>T GRCh38
NC_000019.9:g.10600435C>T , CM000681.1:g.10600435C>T GRCh37
NC_000019.8:g.10461435C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000171111.10:c.1420G>A MANE Select ENSP00000171111.4:p.Ala474Thr
ENST00000171111.9:c.1420G>A ENSP00000171111.4:p.Ala474Thr
ENST00000393623.6:c.1420G>A ENSP00000377245.1:p.Ala474Thr
ENST00000590593.1:c.305-391G>A
ENST00000592478.5:c.239G>A
NM_012289.3:c.1420G>A NP_036421.2:p.Ala474Thr
NM_203500.1:c.1420G>A NP_987096.1:p.Ala474Thr
XM_005260173.1:c.1420G>A XP_005260230.1:p.Ala474Thr
XM_005260174.1:c.1420G>A XP_005260231.1:p.Ala474Thr
XM_011528452.1:c.1420G>A XP_011526754.1:p.Ala474Thr
NM_203500.2:c.1420G>A MANE Select NP_987096.1:p.Ala474Thr
NM_012289.4:c.1420G>A NP_036421.2:p.Ala474Thr