Canonical Allele Identifier: CA356657336
Gene: KLB HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2099T>A MANE Select ENSP00000257408.4:p.Ile700Asn
ENST00000257408.4:c.2099T>A ENSP00000257408.4:p.Ile700Asn
NM_175737.3:c.2099T>A NP_783864.1:p.Ile700Asn
XM_005262644.1:c.2072T>A XP_005262701.1:p.Ile691Asn
NM_175737.4:c.2099T>A MANE Select NP_783864.1:p.Ile700Asn
Search 100 bp 5'
Search 100 bp 3'