Canonical Allele Identifier: CA356657697
Gene: KLB HGNC NCBI

Linked Data

gnomAD v4: 4-39447000-G-T
MyVariant Identifiers: chr4:g.39448620G>T (hg19) chr4:g.39447000G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39447000G>T , CM000666.2:g.39447000G>T GRCh38
NC_000004.11:g.39448620G>T , CM000666.1:g.39448620G>T GRCh37
NC_000004.10:g.39125015G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2274G>T MANE Select ENSP00000257408.4:p.Trp758Cys
ENST00000257408.4:c.2274G>T ENSP00000257408.4:p.Trp758Cys
NM_175737.3:c.2274G>T NP_783864.1:p.Trp758Cys
XM_005262644.1:c.2247G>T XP_005262701.1:p.Trp749Cys
NM_175737.4:c.2274G>T MANE Select NP_783864.1:p.Trp758Cys
Search 100 bp 5'
Search 100 bp 3'