Canonical Allele Identifier: CA1525608

Gene: KLF11

Linked Data

• ClinVar Variation Id: 1337221
• ClinVar RCV Id: RCV001820235 ; RCV002503317
• dbSNP Id: rs368207952
• ExAC: 2:10188275 A / C
• gnomAD v2: 2-10188275-A-C
• gnomAD v3: 2-10048148-A-C
• gnomAD v4: 2-10048148-A-C
• MyVariant Identifiers: chr2:g.10188275A>C (hg19) ; chr2:g.10048148A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10048148A>C , CM000664.2:g.10048148A>C	GRCh38
NC_000002.11:g.10188275A>C , CM000664.1:g.10188275A>C	GRCh37
NC_000002.10:g.10105726A>C	NCBI36
NG_017199.1:g.9594A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305883.6:c.811A>C MANE Select	ENSP00000307023.1:p.Lys271Gln
ENST00000305883.5:c.811A>C	ENSP00000307023.1:p.Lys271Gln
ENST00000535335.1:c.760A>C	ENSP00000442722.1:p.Lys254Gln
ENST00000540845.5:c.760A>C	ENSP00000444690.1:p.Lys254Gln
NM_001177716.1:c.760A>C	NP_001171187.1:p.Lys254Gln
NM_001177718.1:c.760A>C	NP_001171189.1:p.Lys254Gln
NM_003597.4:c.811A>C	NP_003588.1:p.Lys271Gln
XM_005246179.3:c.760A>C	XP_005246236.1:p.Lys254Gln
NM_003597.5:c.811A>C MANE Select	NP_003588.1:p.Lys271Gln
NM_001177716.2:c.760A>C	NP_001171187.1:p.Lys254Gln
NM_001177718.2:c.760A>C	NP_001171189.1:p.Lys254Gln