Canonical Allele Identifier: CA2893955
Gene: KLB HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs17618244

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446909G>A , CM000666.2:g.39446909G>A GRCh38
NC_000004.11:g.39448529G>A , CM000666.1:g.39448529G>A GRCh37
NC_000004.10:g.39124924G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_175737.3:c.2183G>A VV NP_783864.1:p.Arg728Gln
XM_005262644.1:c.2156G>A XP_005262701.1:p.Arg719Gln
NM_175737.4:c.2183G>A VV MANE Preferred NP_783864.1:p.Arg728Gln
ENST00000257408.4:c.2183G>A ENSP00000257408.4:p.Arg728Gln