Canonical Allele Identifier: CA1061366987
Gene: KLB HGNC NCBI

Linked Data

gnomAD v3: 4-39430552-C-A
gnomAD v4: 4-39430552-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39430552C>A , CM000666.2:g.39430552C>A GRCh38
NC_000004.11:g.39432172C>A , CM000666.1:g.39432172C>A GRCh37
NC_000004.10:g.39108567C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.826-3658C>A MANE Select ENSP00000257408.4:n.826-3658C>A
ENST00000257408.4:c.826-3658C>A ENSP00000257408.4:n.826-3658C>A
NM_175737.3:c.826-3658C>A NP_783864.1:n.826-3658C>A
XM_005262644.1:c.826-3658C>A XP_005262701.1:n.826-3658C>A
NM_175737.4:c.826-3658C>A MANE Select NP_783864.1:n.826-3658C>A
Search 100 bp 5'
Search 100 bp 3'