Canonical Allele Identifier: CA439138105
Gene: KLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39448407C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446787C>A , CM000666.2:g.39446787C>A GRCh38
NC_000004.11:g.39448407C>A , CM000666.1:g.39448407C>A GRCh37
NC_000004.10:g.39124802C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2061C>A MANE Select ENSP00000257408.4:p.Leu687=
ENST00000257408.4:c.2061C>A ENSP00000257408.4:p.Leu687=
NM_175737.3:c.2061C>A NP_783864.1:p.Leu687=
XM_005262644.1:c.2034C>A XP_005262701.1:p.Leu678=
NM_175737.4:c.2061C>A MANE Select NP_783864.1:p.Leu687=