Canonical Allele Identifier: CA95711965
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs192217362
gnomAD v2: 4-39448622-G-C
gnomAD v3: 4-39447002-G-C
gnomAD v4: 4-39447002-G-C
MyVariant Identifiers: chr4:g.39448622G>C (hg19) chr4:g.39447002G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39447002G>C , CM000666.2:g.39447002G>C GRCh38
NC_000004.11:g.39448622G>C , CM000666.1:g.39448622G>C GRCh37
NC_000004.10:g.39125017G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2276G>C MANE Select ENSP00000257408.4:p.Arg759Thr
ENST00000257408.4:c.2276G>C ENSP00000257408.4:p.Arg759Thr
NM_175737.3:c.2276G>C NP_783864.1:p.Arg759Thr
XM_005262644.1:c.2249G>C XP_005262701.1:p.Arg750Thr
NM_175737.4:c.2276G>C MANE Select NP_783864.1:p.Arg759Thr
Search 100 bp 5'
Search 100 bp 3'