Canonical Allele Identifier: CA356657321
Gene: KLB HGNC NCBI

Linked Data

gnomAD v4: 4-39446819-G-A
MyVariant Identifiers: chr4:g.39448439G>A (hg19) chr4:g.39446819G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446819G>A , CM000666.2:g.39446819G>A GRCh38
NC_000004.11:g.39448439G>A , CM000666.1:g.39448439G>A GRCh37
NC_000004.10:g.39124834G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2093G>A MANE Select ENSP00000257408.4:p.Ser698Asn
ENST00000257408.4:c.2093G>A ENSP00000257408.4:p.Ser698Asn
NM_175737.3:c.2093G>A NP_783864.1:p.Ser698Asn
XM_005262644.1:c.2066G>A XP_005262701.1:p.Ser689Asn
NM_175737.4:c.2093G>A MANE Select NP_783864.1:p.Ser698Asn
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