Canonical Allele Identifier: CA1452131153
Gene: KLB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39447020T= , CM000666.2:g.39447020T= GRCh38
NC_000004.11:g.39448640T= , CM000666.1:g.39448640T= GRCh37
NC_000004.10:g.39125035T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2294T= MANE Select ENSP00000257408.4:p.Leu765=
ENST00000257408.4:c.2294T= ENSP00000257408.4:p.Leu765=
NM_175737.3:c.2294T= NP_783864.1:p.Leu765=
XM_005262644.1:c.2267T= XP_005262701.1:p.Leu756=
NM_175737.4:c.2294T= MANE Select NP_783864.1:p.Leu765=