Canonical Allele Identifier: CA505383463

Gene: KEAP1

Linked Data

• gnomAD v4: 19-10489766-G-A
• COSMIC: COSM5609242
• MyVariant Identifiers: chr19:g.10600442G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10489766G>A , CM000681.2:g.10489766G>A	GRCh38
NC_000019.9:g.10600442G>A , CM000681.1:g.10600442G>A	GRCh37
NC_000019.8:g.10461442G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000171111.10:c.1413C>T MANE Select	ENSP00000171111.4:p.Leu471=
ENST00000171111.9:c.1413C>T	ENSP00000171111.4:p.Leu471=
ENST00000393623.6:c.1413C>T	ENSP00000377245.1:p.Leu471=
ENST00000590593.1:c.305-398C>T
ENST00000592478.5:c.232C>T
NM_012289.3:c.1413C>T	NP_036421.2:p.Leu471=
NM_203500.1:c.1413C>T	NP_987096.1:p.Leu471=
XM_005260173.1:c.1413C>T	XP_005260230.1:p.Leu471=
XM_005260174.1:c.1413C>T	XP_005260231.1:p.Leu471=
XM_011528452.1:c.1413C>T	XP_011526754.1:p.Leu471=
NM_203500.2:c.1413C>T MANE Select	NP_987096.1:p.Leu471=
NM_012289.4:c.1413C>T	NP_036421.2:p.Leu471=