Canonical Allele Identifier: CA993464750

Gene: KEAP1

Linked Data

• dbSNP Id: rs1914597109
• gnomAD v3: 19-10489577-C-A
• gnomAD v4: 19-10489577-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10489577C>A , CM000681.2:g.10489577C>A	GRCh38
NC_000019.9:g.10600253C>A , CM000681.1:g.10600253C>A	GRCh37
NC_000019.8:g.10461253C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000171111.10:c.1531+71G>T MANE Select	ENSP00000171111.4:n.1531+71G>T
ENST00000171111.9:c.1531+71G>T	ENSP00000171111.4:n.1531+71G>T
ENST00000393623.6:c.1531+71G>T	ENSP00000377245.1:n.1531+71G>T
ENST00000590593.1:c.305-209G>T
ENST00000592478.5:c.350+71G>T
NM_012289.3:c.1531+71G>T	NP_036421.2:n.1531+71G>T
NM_203500.1:c.1531+71G>T	NP_987096.1:n.1531+71G>T
XM_005260173.1:c.1531+71G>T	XP_005260230.1:n.1531+71G>T
XM_005260174.1:c.1531+71G>T	XP_005260231.1:n.1531+71G>T
XM_011528452.1:c.1531+71G>T	XP_011526754.1:n.1531+71G>T
NM_203500.2:c.1531+71G>T MANE Select	NP_987096.1:n.1531+71G>T
NM_012289.4:c.1531+71G>T	NP_036421.2:n.1531+71G>T