Canonical Allele Identifier: CA356657557
Gene: KLB HGNC NCBI

Linked Data

gnomAD v4: 4-39446932-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446932G>A , CM000666.2:g.39446932G>A GRCh38
NC_000004.11:g.39448552G>A , CM000666.1:g.39448552G>A GRCh37
NC_000004.10:g.39124947G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2206G>A MANE Select ENSP00000257408.4:p.Gly736Arg
ENST00000257408.4:c.2206G>A ENSP00000257408.4:p.Gly736Arg
NM_175737.3:c.2206G>A NP_783864.1:p.Gly736Arg
XM_005262644.1:c.2179G>A XP_005262701.1:p.Gly727Arg
NM_175737.4:c.2206G>A MANE Select NP_783864.1:p.Gly736Arg