Canonical Allele Identifier: CA356657316
Gene: KLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39448436T>C (hg19) chr4:g.39446816T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446816T>C , CM000666.2:g.39446816T>C GRCh38
NC_000004.11:g.39448436T>C , CM000666.1:g.39448436T>C GRCh37
NC_000004.10:g.39124831T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2090T>C MANE Select ENSP00000257408.4:p.Leu697Pro
ENST00000257408.4:c.2090T>C ENSP00000257408.4:p.Leu697Pro
NM_175737.3:c.2090T>C NP_783864.1:p.Leu697Pro
XM_005262644.1:c.2063T>C XP_005262701.1:p.Leu688Pro
NM_175737.4:c.2090T>C MANE Select NP_783864.1:p.Leu697Pro
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