Canonical Allele Identifier: CA118318
Gene: KLF11 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.10047996C>T
GRCh37 chr2:g.10188123C>T
Revel Score:
ENST00000305883 (MANE Select) 0.129
ENST00000540845 0.129
ENST00000535335 0.129
gnomAD v2:
2:10188123 C / T
gnomAD v3:
2:10047996 C / T
gnomAD v4:
chr2-10047996-C-T
Joint Max Group AF 0.04209509 (AFR)
Genomes Max Group AF 0.04008959 (AFR)
Exomes Max Group AF 0.04344276 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.10047996C>T , CM000664.2:g.10047996C>T GRCh38
NC_000002.11:g.10188123C>T , CM000664.1:g.10188123C>T GRCh37
NC_000002.10:g.10105574C>T NCBI36
NG_017199.1:g.9442C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305883.6:c.659C>T MANE Select ENSP00000307023.1:p.Thr220Met
ENST00000305883.5:c.659C>T ENSP00000307023.1:p.Thr220Met
ENST00000535335.1:c.608C>T ENSP00000442722.1:p.Thr203Met
ENST00000540845.5:c.608C>T ENSP00000444690.1:p.Thr203Met
NM_001177716.1:c.608C>T NP_001171187.1:p.Thr203Met
NM_001177718.1:c.608C>T NP_001171189.1:p.Thr203Met
NM_003597.4:c.659C>T NP_003588.1:p.Thr220Met
XM_005246179.3:c.608C>T XP_005246236.1:p.Thr203Met
NM_003597.5:c.659C>T MANE Select NP_003588.1:p.Thr220Met
NM_001177716.2:c.608C>T NP_001171187.1:p.Thr203Met
NM_001177718.2:c.608C>T NP_001171189.1:p.Thr203Met
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