Canonical Allele Identifier: CA345802527
Gene: KLF11 HGNC NCBI

Linked Data

dbSNP Id: rs1213367420
gnomAD v2: 2-10188243-C-T
gnomAD v4: 2-10048116-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.10048116C>T , CM000664.2:g.10048116C>T GRCh38
NC_000002.11:g.10188243C>T , CM000664.1:g.10188243C>T GRCh37
NC_000002.10:g.10105694C>T NCBI36
NG_017199.1:g.9562C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305883.6:c.779C>T MANE Select ENSP00000307023.1:p.Ser260Leu
ENST00000305883.5:c.779C>T ENSP00000307023.1:p.Ser260Leu
ENST00000535335.1:c.728C>T ENSP00000442722.1:p.Ser243Leu
ENST00000540845.5:c.728C>T ENSP00000444690.1:p.Ser243Leu
NM_001177716.1:c.728C>T NP_001171187.1:p.Ser243Leu
NM_001177718.1:c.728C>T NP_001171189.1:p.Ser243Leu
NM_003597.4:c.779C>T NP_003588.1:p.Ser260Leu
XM_005246179.3:c.728C>T XP_005246236.1:p.Ser243Leu
NM_003597.5:c.779C>T MANE Select NP_003588.1:p.Ser260Leu
NM_001177716.2:c.728C>T NP_001171187.1:p.Ser243Leu
NM_001177718.2:c.728C>T NP_001171189.1:p.Ser243Leu