Canonical Allele Identifier: CA1525383

Gene: KLF11

Linked Data

• ClinVar Variation Id: 2168959
• ClinVar RCV Id: RCV003082831 ; RCV004073240
• dbSNP Id: rs200094318
• ExAC: 2:10186283 A / G
• gnomAD v2: 2-10186283-A-G
• gnomAD v3: 2-10046156-A-G
• gnomAD v4: 2-10046156-A-G
• MyVariant Identifiers: chr2:g.10186283A>G (hg19) ; chr2:g.10046156A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10046156A>G , CM000664.2:g.10046156A>G	GRCh38
NC_000002.11:g.10186283A>G , CM000664.1:g.10186283A>G	GRCh37
NC_000002.10:g.10103734A>G	NCBI36
NG_017199.1:g.7602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305883.6:c.49A>G MANE Select	ENSP00000307023.1:p.Ile17Val
ENST00000305883.5:c.49A>G	ENSP00000307023.1:p.Ile17Val
ENST00000401510.5:c.-3A>G	ENSP00000386058.1:n.-3A>G
ENST00000440320.5:c.-3A>G	ENSP00000388263.1:n.-3A>G
ENST00000448523.5:c.-3A>G	ENSP00000387866.1:n.-3A>G
ENST00000535335.1:c.-3A>G	ENSP00000442722.1:n.-3A>G
ENST00000540845.5:c.-3A>G	ENSP00000444690.1:n.-3A>G
NM_001177716.1:c.-3A>G	NP_001171187.1:n.-3A>G
NM_001177718.1:c.-3A>G	NP_001171189.1:n.-3A>G
NM_003597.4:c.49A>G	NP_003588.1:p.Ile17Val
XM_005246179.3:c.-3A>G	XP_005246236.1:n.-3A>G
NM_003597.5:c.49A>G MANE Select	NP_003588.1:p.Ile17Val
NM_001177716.2:c.-3A>G	NP_001171187.1:n.-3A>G
NM_001177718.2:c.-3A>G	NP_001171189.1:n.-3A>G