Canonical Allele Identifier: CA1452131105
Gene: KLB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446930G= , CM000666.2:g.39446930G= GRCh38
NC_000004.11:g.39448550G= , CM000666.1:g.39448550G= GRCh37
NC_000004.10:g.39124945G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2204G= MANE Select ENSP00000257408.4:p.Arg735=
ENST00000257408.4:c.2204G= ENSP00000257408.4:p.Arg735=
NM_175737.3:c.2204G= NP_783864.1:p.Arg735=
XM_005262644.1:c.2177G= XP_005262701.1:p.Arg726=
NM_175737.4:c.2204G= MANE Select NP_783864.1:p.Arg735=