Canonical Allele Identifier: CA1525601
Gene: KLF11 HGNC NCBI

Linked Data

ClinVar Variation Id: 330631
ClinVar RCV Id: RCV000384196 RCV000664079 RCV000500248 RCV001850772
dbSNP Id: rs148123124
ExAC: 2:10188246 C / T
gnomAD v2: 2-10188246-C-T
gnomAD v3: 2-10048119-C-T
gnomAD v4: 2-10048119-C-T
MyVariant Identifiers: chr2:g.10188246C>T (hg19) chr2:g.10048119C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.10048119C>T , CM000664.2:g.10048119C>T GRCh38
NC_000002.11:g.10188246C>T , CM000664.1:g.10188246C>T GRCh37
NC_000002.10:g.10105697C>T NCBI36
NG_017199.1:g.9565C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305883.6:c.782C>T MANE Select ENSP00000307023.1:p.Pro261Leu
ENST00000305883.5:c.782C>T ENSP00000307023.1:p.Pro261Leu
ENST00000535335.1:c.731C>T ENSP00000442722.1:p.Pro244Leu
ENST00000540845.5:c.731C>T ENSP00000444690.1:p.Pro244Leu
NM_001177716.1:c.731C>T NP_001171187.1:p.Pro244Leu
NM_001177718.1:c.731C>T NP_001171189.1:p.Pro244Leu
NM_003597.4:c.782C>T NP_003588.1:p.Pro261Leu
XM_005246179.3:c.731C>T XP_005246236.1:p.Pro244Leu
NM_003597.5:c.782C>T MANE Select NP_003588.1:p.Pro261Leu
NM_001177716.2:c.731C>T NP_001171187.1:p.Pro244Leu
NM_001177718.2:c.731C>T NP_001171189.1:p.Pro244Leu
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