Canonical Allele Identifier: CA356657587
Gene: KLB HGNC NCBI

Linked Data

gnomAD v4: 4-39446948-C-A
MyVariant Identifiers: chr4:g.39448568C>A (hg19) chr4:g.39446948C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446948C>A , CM000666.2:g.39446948C>A GRCh38
NC_000004.11:g.39448568C>A , CM000666.1:g.39448568C>A GRCh37
NC_000004.10:g.39124963C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2222C>A MANE Select ENSP00000257408.4:p.Ser741Ter
ENST00000257408.4:c.2222C>A ENSP00000257408.4:p.Ser741Ter
NM_175737.3:c.2222C>A NP_783864.1:p.Ser741Ter
XM_005262644.1:c.2195C>A XP_005262701.1:p.Ser732Ter
NM_175737.4:c.2222C>A MANE Select NP_783864.1:p.Ser741Ter
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