Canonical Allele Identifier: CA1452131111
Gene: KLB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446941T= , CM000666.2:g.39446941T= GRCh38
NC_000004.11:g.39448561T= , CM000666.1:g.39448561T= GRCh37
NC_000004.10:g.39124956T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2215T= MANE Select ENSP00000257408.4:p.Ser739=
ENST00000257408.4:c.2215T= ENSP00000257408.4:p.Ser739=
NM_175737.3:c.2215T= NP_783864.1:p.Ser739=
XM_005262644.1:c.2188T= XP_005262701.1:p.Ser730=
NM_175737.4:c.2215T= MANE Select NP_783864.1:p.Ser739=