Canonical Allele Identifier: CA1525666
Gene: KLF11 HGNC NCBI

Linked Data

dbSNP Id: rs770834509
gnomAD v2: 2-10188504-C-T
gnomAD v4: 2-10048377-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.10048377C>T , CM000664.2:g.10048377C>T GRCh38
NC_000002.11:g.10188504C>T , CM000664.1:g.10188504C>T GRCh37
NC_000002.10:g.10105955C>T NCBI36
NG_017199.1:g.9823C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000305883.6:c.1040C>T MANE Select ENSP00000307023.1:p.Ala347Val
ENST00000305883.5:c.1040C>T ENSP00000307023.1:p.Ala347Val
ENST00000535335.1:c.989C>T ENSP00000442722.1:p.Ala330Val
ENST00000540845.5:c.989C>T ENSP00000444690.1:p.Ala330Val
NM_001177716.1:c.989C>T NP_001171187.1:p.Ala330Val
NM_001177718.1:c.989C>T NP_001171189.1:p.Ala330Val
NM_003597.4:c.1040C>T NP_003588.1:p.Ala347Val
XM_005246179.3:c.989C>T XP_005246236.1:p.Ala330Val
NM_003597.5:c.1040C>T MANE Select NP_003588.1:p.Ala347Val
NM_001177716.2:c.989C>T NP_001171187.1:p.Ala330Val
NM_001177718.2:c.989C>T NP_001171189.1:p.Ala330Val