Canonical Allele Identifier: CA356657189
Gene: KLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39448395C>A (hg19) chr4:g.39446775C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446775C>A , CM000666.2:g.39446775C>A GRCh38
NC_000004.11:g.39448395C>A , CM000666.1:g.39448395C>A GRCh37
NC_000004.10:g.39124790C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2049C>A MANE Select ENSP00000257408.4:p.Asp683Glu
ENST00000257408.4:c.2049C>A ENSP00000257408.4:p.Asp683Glu
NM_175737.3:c.2049C>A NP_783864.1:p.Asp683Glu
XM_005262644.1:c.2022C>A XP_005262701.1:p.Asp674Glu
NM_175737.4:c.2049C>A MANE Select NP_783864.1:p.Asp683Glu
Search 100 bp 5'
Search 100 bp 3'