Canonical Allele Identifier: CA356657662
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs1255749074
gnomAD v2: 4-39448606-G-A
gnomAD v4: 4-39446986-G-A
MyVariant Identifiers: chr4:g.39448606G>A (hg19) chr4:g.39446986G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446986G>A , CM000666.2:g.39446986G>A GRCh38
NC_000004.11:g.39448606G>A , CM000666.1:g.39448606G>A GRCh37
NC_000004.10:g.39125001G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2260G>A MANE Select ENSP00000257408.4:p.Ala754Thr
ENST00000257408.4:c.2260G>A ENSP00000257408.4:p.Ala754Thr
NM_175737.3:c.2260G>A NP_783864.1:p.Ala754Thr
XM_005262644.1:c.2233G>A XP_005262701.1:p.Ala745Thr
NM_175737.4:c.2260G>A MANE Select NP_783864.1:p.Ala754Thr
Search 100 bp 5'
Search 100 bp 3'