Canonical Allele Identifier: CA356657187
Gene: KLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39448394A>T (hg19) chr4:g.39446774A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446774A>T , CM000666.2:g.39446774A>T GRCh38
NC_000004.11:g.39448394A>T , CM000666.1:g.39448394A>T GRCh37
NC_000004.10:g.39124789A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2048A>T MANE Select ENSP00000257408.4:p.Asp683Val
ENST00000257408.4:c.2048A>T ENSP00000257408.4:p.Asp683Val
NM_175737.3:c.2048A>T NP_783864.1:p.Asp683Val
XM_005262644.1:c.2021A>T XP_005262701.1:p.Asp674Val
NM_175737.4:c.2048A>T MANE Select NP_783864.1:p.Asp683Val
Search 100 bp 5'
Search 100 bp 3'