Canonical Allele Identifier: CA95711919
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs767733785
gnomAD v4: 4-39446957-C-A
MyVariant Identifiers: chr4:g.39448577C>A (hg19) chr4:g.39446957C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446957C>A , CM000666.2:g.39446957C>A GRCh38
NC_000004.11:g.39448577C>A , CM000666.1:g.39448577C>A GRCh37
NC_000004.10:g.39124972C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2231C>A MANE Select ENSP00000257408.4:p.Ala744Glu
ENST00000257408.4:c.2231C>A ENSP00000257408.4:p.Ala744Glu
NM_175737.3:c.2231C>A NP_783864.1:p.Ala744Glu
XM_005262644.1:c.2204C>A XP_005262701.1:p.Ala735Glu
NM_175737.4:c.2231C>A MANE Select NP_783864.1:p.Ala744Glu
Search 100 bp 5'
Search 100 bp 3'