Canonical Allele Identifier: CA356657335
Gene: KLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39448444A>C (hg19) chr4:g.39446824A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446824A>C , CM000666.2:g.39446824A>C GRCh38
NC_000004.11:g.39448444A>C , CM000666.1:g.39448444A>C GRCh37
NC_000004.10:g.39124839A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000257408.5:c.2098A>C MANE Select ENSP00000257408.4:p.Ile700Leu
ENST00000257408.4:c.2098A>C ENSP00000257408.4:p.Ile700Leu
NM_175737.3:c.2098A>C NP_783864.1:p.Ile700Leu
XM_005262644.1:c.2071A>C XP_005262701.1:p.Ile691Leu
NM_175737.4:c.2098A>C MANE Select NP_783864.1:p.Ile700Leu
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