Canonical Allele Identifier: CA2893960
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs746273211
ExAC: 4:39448545 A / G
gnomAD v2: 4-39448545-A-G
gnomAD v3: 4-39446925-A-G
gnomAD v4: 4-39446925-A-G
MyVariant Identifiers: chr4:g.39448545A>G (hg19) chr4:g.39446925A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446925A>G , CM000666.2:g.39446925A>G GRCh38
NC_000004.11:g.39448545A>G , CM000666.1:g.39448545A>G GRCh37
NC_000004.10:g.39124940A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2199A>G MANE Select ENSP00000257408.4:p.Ser733=
ENST00000257408.4:c.2199A>G ENSP00000257408.4:p.Ser733=
NM_175737.3:c.2199A>G NP_783864.1:p.Ser733=
XM_005262644.1:c.2172A>G XP_005262701.1:p.Ser724=
NM_175737.4:c.2199A>G MANE Select NP_783864.1:p.Ser733=
Search 100 bp 5'
Search 100 bp 3'