Canonical Allele Identifier: CA439138060
Gene: KLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39448596C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446976C>G , CM000666.2:g.39446976C>G GRCh38
NC_000004.11:g.39448596C>G , CM000666.1:g.39448596C>G GRCh37
NC_000004.10:g.39124991C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2250C>G MANE Select ENSP00000257408.4:p.Ala750=
ENST00000257408.4:c.2250C>G ENSP00000257408.4:p.Ala750=
NM_175737.3:c.2250C>G NP_783864.1:p.Ala750=
XM_005262644.1:c.2223C>G XP_005262701.1:p.Ala741=
NM_175737.4:c.2250C>G MANE Select NP_783864.1:p.Ala750=