Canonical Allele Identifier: CA356657632
Gene: KLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39448590A>T (hg19) chr4:g.39446970A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446970A>T , CM000666.2:g.39446970A>T GRCh38
NC_000004.11:g.39448590A>T , CM000666.1:g.39448590A>T GRCh37
NC_000004.10:g.39124985A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2244A>T MANE Select ENSP00000257408.4:p.Glu748Asp
ENST00000257408.4:c.2244A>T ENSP00000257408.4:p.Glu748Asp
NM_175737.3:c.2244A>T NP_783864.1:p.Glu748Asp
XM_005262644.1:c.2217A>T XP_005262701.1:p.Glu739Asp
NM_175737.4:c.2244A>T MANE Select NP_783864.1:p.Glu748Asp
Search 100 bp 5'
Search 100 bp 3'