Canonical Allele Identifier: CA1452131145
Gene: KLB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39447000G= , CM000666.2:g.39447000G= GRCh38
NC_000004.11:g.39448620G= , CM000666.1:g.39448620G= GRCh37
NC_000004.10:g.39125015G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2274G= MANE Select ENSP00000257408.4:p.Trp758=
ENST00000257408.4:c.2274G= ENSP00000257408.4:p.Trp758=
NM_175737.3:c.2274G= NP_783864.1:p.Trp758=
XM_005262644.1:c.2247G= XP_005262701.1:p.Trp749=
NM_175737.4:c.2274G= MANE Select NP_783864.1:p.Trp758=
Search 100 bp 5'
Search 100 bp 3'