Canonical Allele Identifier: CA345803701

Gene: KLF11

Linked Data

• gnomAD v4: 2-10048379-C-T
• MyVariant Identifiers: chr2:g.10188506C>T (hg19) ; chr2:g.10048379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10048379C>T , CM000664.2:g.10048379C>T	GRCh38
NC_000002.11:g.10188506C>T , CM000664.1:g.10188506C>T	GRCh37
NC_000002.10:g.10105957C>T	NCBI36
NG_017199.1:g.9825C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305883.6:c.1042C>T MANE Select	ENSP00000307023.1:p.Leu348Phe
ENST00000305883.5:c.1042C>T	ENSP00000307023.1:p.Leu348Phe
ENST00000535335.1:c.991C>T	ENSP00000442722.1:p.Leu331Phe
ENST00000540845.5:c.991C>T	ENSP00000444690.1:p.Leu331Phe
NM_001177716.1:c.991C>T	NP_001171187.1:p.Leu331Phe
NM_001177718.1:c.991C>T	NP_001171189.1:p.Leu331Phe
NM_003597.4:c.1042C>T	NP_003588.1:p.Leu348Phe
XM_005246179.3:c.991C>T	XP_005246236.1:p.Leu331Phe
NM_003597.5:c.1042C>T MANE Select	NP_003588.1:p.Leu348Phe
NM_001177716.2:c.991C>T	NP_001171187.1:p.Leu331Phe
NM_001177718.2:c.991C>T	NP_001171189.1:p.Leu331Phe