Canonical Allele Identifier: CA120054
Gene: KLF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18447
dbSNP Id: rs267607201

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12885001C>T , CM000681.2:g.12885001C>T GRCh38
NC_000019.9:g.12995815C>T , CM000681.1:g.12995815C>T GRCh37
NC_000019.8:g.12856815C>T NCBI36
NG_013087.1:g.7203G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264834.6:c.973G>A MANE Select ENSP00000264834.3:p.Glu325Lys
ENST00000264834.4:c.973G>A ENSP00000264834.3:p.Glu325Lys
NM_006563.3:c.973G>A NP_006554.1:p.Glu325Lys
XM_011527642.1:c.859G>A XP_011525944.1:p.Glu287Lys
NM_006563.4:c.973G>A NP_006554.1:p.Glu325Lys
XM_011527642.2:c.859G>A XP_011525944.1:p.Glu287Lys
NM_006563.5:c.973G>A MANE Select NP_006554.1:p.Glu325Lys