Canonical Allele Identifier: CA1452131042
Gene: KLB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446787C= , CM000666.2:g.39446787C= GRCh38
NC_000004.11:g.39448407C= , CM000666.1:g.39448407C= GRCh37
NC_000004.10:g.39124802C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2061C= MANE Select ENSP00000257408.4:p.Leu687=
ENST00000257408.4:c.2061C= ENSP00000257408.4:p.Leu687=
NM_175737.3:c.2061C= NP_783864.1:p.Leu687=
XM_005262644.1:c.2034C= XP_005262701.1:p.Leu678=
NM_175737.4:c.2061C= MANE Select NP_783864.1:p.Leu687=
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