Canonical Allele Identifier: CA1525612
Gene: KLF11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2908399
ClinVar RCV Id: RCV003729779
dbSNP Id: rs765154301
ExAC: 2:10188298 C / A
gnomAD v2: 2-10188298-C-A
gnomAD v3: 2-10048171-C-A
gnomAD v4: 2-10048171-C-A
MyVariant Identifiers: chr2:g.10188298C>A (hg19) chr2:g.10048171C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.10048171C>A , CM000664.2:g.10048171C>A GRCh38
NC_000002.11:g.10188298C>A , CM000664.1:g.10188298C>A GRCh37
NC_000002.10:g.10105749C>A NCBI36
NG_017199.1:g.9617C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305883.6:c.834C>A MANE Select ENSP00000307023.1:p.Val278=
ENST00000305883.5:c.834C>A ENSP00000307023.1:p.Val278=
ENST00000535335.1:c.783C>A ENSP00000442722.1:p.Val261=
ENST00000540845.5:c.783C>A ENSP00000444690.1:p.Val261=
NM_001177716.1:c.783C>A NP_001171187.1:p.Val261=
NM_001177718.1:c.783C>A NP_001171189.1:p.Val261=
NM_003597.4:c.834C>A NP_003588.1:p.Val278=
XM_005246179.3:c.783C>A XP_005246236.1:p.Val261=
NM_003597.5:c.834C>A MANE Select NP_003588.1:p.Val278=
NM_001177716.2:c.783C>A NP_001171187.1:p.Val261=
NM_001177718.2:c.783C>A NP_001171189.1:p.Val261=
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