Canonical Allele Identifier: CA356657314
Gene: KLB HGNC NCBI

Linked Data

gnomAD v4: 4-39446815-C-G
MyVariant Identifiers: chr4:g.39448435C>G (hg19) chr4:g.39446815C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446815C>G , CM000666.2:g.39446815C>G GRCh38
NC_000004.11:g.39448435C>G , CM000666.1:g.39448435C>G GRCh37
NC_000004.10:g.39124830C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2089C>G MANE Select ENSP00000257408.4:p.Leu697Val
ENST00000257408.4:c.2089C>G ENSP00000257408.4:p.Leu697Val
NM_175737.3:c.2089C>G NP_783864.1:p.Leu697Val
XM_005262644.1:c.2062C>G XP_005262701.1:p.Leu688Val
NM_175737.4:c.2089C>G MANE Select NP_783864.1:p.Leu697Val
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