Canonical Allele Identifier: CA439138158
Gene: KLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39448440T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446820T>C , CM000666.2:g.39446820T>C GRCh38
NC_000004.11:g.39448440T>C , CM000666.1:g.39448440T>C GRCh37
NC_000004.10:g.39124835T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2094T>C MANE Select ENSP00000257408.4:p.Ser698=
ENST00000257408.4:c.2094T>C ENSP00000257408.4:p.Ser698=
NM_175737.3:c.2094T>C NP_783864.1:p.Ser698=
XM_005262644.1:c.2067T>C XP_005262701.1:p.Ser689=
NM_175737.4:c.2094T>C MANE Select NP_783864.1:p.Ser698=