Canonical Allele Identifier: CA356657337
Gene: KLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39448445T>C (hg19) chr4:g.39446825T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446825T>C , CM000666.2:g.39446825T>C GRCh38
NC_000004.11:g.39448445T>C , CM000666.1:g.39448445T>C GRCh37
NC_000004.10:g.39124840T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000257408.5:c.2099T>C MANE Select ENSP00000257408.4:p.Ile700Thr
ENST00000257408.4:c.2099T>C ENSP00000257408.4:p.Ile700Thr
NM_175737.3:c.2099T>C NP_783864.1:p.Ile700Thr
XM_005262644.1:c.2072T>C XP_005262701.1:p.Ile691Thr
NM_175737.4:c.2099T>C MANE Select NP_783864.1:p.Ile700Thr
Search 100 bp 5'
Search 100 bp 3'