Canonical Allele Identifier: CA356657257
Gene: KLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39448413C>G (hg19) chr4:g.39446793C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446793C>G , CM000666.2:g.39446793C>G GRCh38
NC_000004.11:g.39448413C>G , CM000666.1:g.39448413C>G GRCh37
NC_000004.10:g.39124808C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2067C>G MANE Select ENSP00000257408.4:p.Ile689Met
ENST00000257408.4:c.2067C>G ENSP00000257408.4:p.Ile689Met
NM_175737.3:c.2067C>G NP_783864.1:p.Ile689Met
XM_005262644.1:c.2040C>G XP_005262701.1:p.Ile680Met
NM_175737.4:c.2067C>G MANE Select NP_783864.1:p.Ile689Met
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