Canonical Allele Identifier: CA95711752
Gene: KLB HGNC NCBI

Linked Data

ClinVar Variation Id: 3115200
ClinVar RCV Id: RCV004406518
dbSNP Id: rs765644764
gnomAD v2: 4-39448363-T-A
gnomAD v3: 4-39446743-T-A
gnomAD v4: 4-39446743-T-A
MyVariant Identifiers: chr4:g.39448363T>A (hg19) chr4:g.39446743T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446743T>A , CM000666.2:g.39446743T>A GRCh38
NC_000004.11:g.39448363T>A , CM000666.1:g.39448363T>A GRCh37
NC_000004.10:g.39124758T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2017T>A MANE Select ENSP00000257408.4:p.Tyr673Asn
ENST00000257408.4:c.2017T>A ENSP00000257408.4:p.Tyr673Asn
NM_175737.3:c.2017T>A NP_783864.1:p.Tyr673Asn
XM_005262644.1:c.1990T>A XP_005262701.1:p.Tyr664Asn
NM_175737.4:c.2017T>A MANE Select NP_783864.1:p.Tyr673Asn
Search 100 bp 5'
Search 100 bp 3'