Canonical Allele Identifier: CA1525442

Gene: KLF11

Linked Data

• ClinVar Variation Id: 330624
• ClinVar RCV Id: RCV000262445
• dbSNP Id: rs766187124
• ExAC: 2:10186500 C / T
• gnomAD v2: 2-10186500-C-T
• gnomAD v3: 2-10046373-C-T
• gnomAD v4: 2-10046373-C-T
• MyVariant Identifiers: chr2:g.10186500C>T (hg19) ; chr2:g.10046373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10046373C>T , CM000664.2:g.10046373C>T	GRCh38
NC_000002.11:g.10186500C>T , CM000664.1:g.10186500C>T	GRCh37
NC_000002.10:g.10103951C>T	NCBI36
NG_017199.1:g.7819C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305883.6:c.266C>T MANE Select	ENSP00000307023.1:p.Ala89Val
ENST00000305883.5:c.266C>T	ENSP00000307023.1:p.Ala89Val
ENST00000401510.5:c.215C>T	ENSP00000386058.1:p.Ala72Val
ENST00000440320.5:c.215C>T	ENSP00000388263.1:p.Ala72Val
ENST00000448523.5:c.215C>T	ENSP00000387866.1:p.Ala72Val
ENST00000535335.1:c.215C>T	ENSP00000442722.1:p.Ala72Val
ENST00000540845.5:c.215C>T	ENSP00000444690.1:p.Ala72Val
NM_001177716.1:c.215C>T	NP_001171187.1:p.Ala72Val
NM_001177718.1:c.215C>T	NP_001171189.1:p.Ala72Val
NM_003597.4:c.266C>T	NP_003588.1:p.Ala89Val
XM_005246179.3:c.215C>T	XP_005246236.1:p.Ala72Val
NM_003597.5:c.266C>T MANE Select	NP_003588.1:p.Ala89Val
NM_001177716.2:c.215C>T	NP_001171187.1:p.Ala72Val
NM_001177718.2:c.215C>T	NP_001171189.1:p.Ala72Val