Canonical Allele Identifier: CA356657543
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs1743761617
gnomAD v4: 4-39446924-C-T
MyVariant Identifiers: chr4:g.39448544C>T (hg19) chr4:g.39446924C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446924C>T , CM000666.2:g.39446924C>T GRCh38
NC_000004.11:g.39448544C>T , CM000666.1:g.39448544C>T GRCh37
NC_000004.10:g.39124939C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2198C>T MANE Select ENSP00000257408.4:p.Ser733Leu
ENST00000257408.4:c.2198C>T ENSP00000257408.4:p.Ser733Leu
NM_175737.3:c.2198C>T NP_783864.1:p.Ser733Leu
XM_005262644.1:c.2171C>T XP_005262701.1:p.Ser724Leu
NM_175737.4:c.2198C>T MANE Select NP_783864.1:p.Ser733Leu
Search 100 bp 5'
Search 100 bp 3'