Canonical Allele Identifier: CA356657338
Gene: KLB HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2099T>G MANE Select ENSP00000257408.4:p.Ile700Ser
ENST00000257408.4:c.2099T>G ENSP00000257408.4:p.Ile700Ser
NM_175737.3:c.2099T>G NP_783864.1:p.Ile700Ser
XM_005262644.1:c.2072T>G XP_005262701.1:p.Ile691Ser
NM_175737.4:c.2099T>G MANE Select NP_783864.1:p.Ile700Ser
Search 100 bp 5'
Search 100 bp 3'