Canonical Allele Identifier: CA10611738

Gene: KLF11

Linked Data

• ClinVar Variation Id: 330634
• ClinVar RCV Id: RCV000400205
• dbSNP Id: rs886054723
• gnomAD v2: 2-10188510-C-T
• gnomAD v3: 2-10048383-C-T
• gnomAD v4: 2-10048383-C-T
• MyVariant Identifiers: chr2:g.10188510C>T (hg19) ; chr2:g.10048383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10048383C>T , CM000664.2:g.10048383C>T	GRCh38
NC_000002.11:g.10188510C>T , CM000664.1:g.10188510C>T	GRCh37
NC_000002.10:g.10105961C>T	NCBI36
NG_017199.1:g.9829C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305883.6:c.1046C>T MANE Select	ENSP00000307023.1:p.Pro349Leu
ENST00000305883.5:c.1046C>T	ENSP00000307023.1:p.Pro349Leu
ENST00000535335.1:c.995C>T	ENSP00000442722.1:p.Pro332Leu
ENST00000540845.5:c.995C>T	ENSP00000444690.1:p.Pro332Leu
NM_001177716.1:c.995C>T	NP_001171187.1:p.Pro332Leu
NM_001177718.1:c.995C>T	NP_001171189.1:p.Pro332Leu
NM_003597.4:c.1046C>T	NP_003588.1:p.Pro349Leu
XM_005246179.3:c.995C>T	XP_005246236.1:p.Pro332Leu
NM_003597.5:c.1046C>T MANE Select	NP_003588.1:p.Pro349Leu
NM_001177716.2:c.995C>T	NP_001171187.1:p.Pro332Leu
NM_001177718.2:c.995C>T	NP_001171189.1:p.Pro332Leu