Canonical Allele Identifier: CA9195459

Gene: KEAP1

Linked Data

• dbSNP Id: rs369132814
• ExAC: 19:10600348 T / C
• gnomAD v2: 19-10600348-T-C
• gnomAD v3: 19-10489672-T-C
• gnomAD v4: 19-10489672-T-C
• MyVariant Identifiers: chr19:g.10600348T>C (hg19) ; chr19:g.10489672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10489672T>C , CM000681.2:g.10489672T>C	GRCh38
NC_000019.9:g.10600348T>C , CM000681.1:g.10600348T>C	GRCh37
NC_000019.8:g.10461348T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000171111.10:c.1507A>G MANE Select	ENSP00000171111.4:p.Met503Val
ENST00000171111.9:c.1507A>G	ENSP00000171111.4:p.Met503Val
ENST00000393623.6:c.1507A>G	ENSP00000377245.1:p.Met503Val
ENST00000590593.1:c.305-304A>G
ENST00000592478.5:c.326A>G
NM_012289.3:c.1507A>G	NP_036421.2:p.Met503Val
NM_203500.1:c.1507A>G	NP_987096.1:p.Met503Val
XM_005260173.1:c.1507A>G	XP_005260230.1:p.Met503Val
XM_005260174.1:c.1507A>G	XP_005260231.1:p.Met503Val
XM_011528452.1:c.1507A>G	XP_011526754.1:p.Met503Val
NM_203500.2:c.1507A>G MANE Select	NP_987096.1:p.Met503Val
NM_012289.4:c.1507A>G	NP_036421.2:p.Met503Val