Canonical Allele Identifier: CA1525614
Gene: KLF11 HGNC NCBI

Linked Data

dbSNP Id: rs548146556
gnomAD v2: 2-10188302-G-T
gnomAD v3: 2-10048175-G-T
gnomAD v4: 2-10048175-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.10048175G>T , CM000664.2:g.10048175G>T GRCh38
NC_000002.11:g.10188302G>T , CM000664.1:g.10188302G>T GRCh37
NC_000002.10:g.10105753G>T NCBI36
NG_017199.1:g.9621G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305883.6:c.838G>T MANE Select ENSP00000307023.1:p.Val280Phe
ENST00000305883.5:c.838G>T ENSP00000307023.1:p.Val280Phe
ENST00000535335.1:c.787G>T ENSP00000442722.1:p.Val263Phe
ENST00000540845.5:c.787G>T ENSP00000444690.1:p.Val263Phe
NM_001177716.1:c.787G>T NP_001171187.1:p.Val263Phe
NM_001177718.1:c.787G>T NP_001171189.1:p.Val263Phe
NM_003597.4:c.838G>T NP_003588.1:p.Val280Phe
XM_005246179.3:c.787G>T XP_005246236.1:p.Val263Phe
NM_003597.5:c.838G>T MANE Select NP_003588.1:p.Val280Phe
NM_001177716.2:c.787G>T NP_001171187.1:p.Val263Phe
NM_001177718.2:c.787G>T NP_001171189.1:p.Val263Phe