Canonical Allele Identifier: CA1452131126
Gene: KLB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446967G= , CM000666.2:g.39446967G= GRCh38
NC_000004.11:g.39448587G= , CM000666.1:g.39448587G= GRCh37
NC_000004.10:g.39124982G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2241G= MANE Select ENSP00000257408.4:p.Ala747=
ENST00000257408.4:c.2241G= ENSP00000257408.4:p.Ala747=
NM_175737.3:c.2241G= NP_783864.1:p.Ala747=
XM_005262644.1:c.2214G= XP_005262701.1:p.Ala738=
NM_175737.4:c.2241G= MANE Select NP_783864.1:p.Ala747=
Search 100 bp 5'
Search 100 bp 3'