Canonical Allele Identifier: CA403986288

Gene: KEAP1

Linked Data

• dbSNP Id: rs547713274
• COSMIC: COSM1711812
• MyVariant Identifiers: chr19:g.10600432C>G (hg19) ; chr19:g.10489756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10489756C>G , CM000681.2:g.10489756C>G	GRCh38
NC_000019.9:g.10600432C>G , CM000681.1:g.10600432C>G	GRCh37
NC_000019.8:g.10461432C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000171111.10:c.1423G>C MANE Select	ENSP00000171111.4:p.Val475Leu
ENST00000171111.9:c.1423G>C	ENSP00000171111.4:p.Val475Leu
ENST00000393623.6:c.1423G>C	ENSP00000377245.1:p.Val475Leu
ENST00000590593.1:c.305-388G>C
ENST00000592478.5:c.242G>C
NM_012289.3:c.1423G>C	NP_036421.2:p.Val475Leu
NM_203500.1:c.1423G>C	NP_987096.1:p.Val475Leu
XM_005260173.1:c.1423G>C	XP_005260230.1:p.Val475Leu
XM_005260174.1:c.1423G>C	XP_005260231.1:p.Val475Leu
XM_011528452.1:c.1423G>C	XP_011526754.1:p.Val475Leu
NM_203500.2:c.1423G>C MANE Select	NP_987096.1:p.Val475Leu
NM_012289.4:c.1423G>C	NP_036421.2:p.Val475Leu