Canonical Allele Identifier: CA356657072
Gene: KLB HGNC NCBI

Linked Data

gnomAD v4: 4-39446741-C-T
MyVariant Identifiers: chr4:g.39448361C>T (hg19) chr4:g.39446741C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446741C>T , CM000666.2:g.39446741C>T GRCh38
NC_000004.11:g.39448361C>T , CM000666.1:g.39448361C>T GRCh37
NC_000004.10:g.39124756C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2015C>T MANE Select ENSP00000257408.4:p.Ala672Val
ENST00000257408.4:c.2015C>T ENSP00000257408.4:p.Ala672Val
NM_175737.3:c.2015C>T NP_783864.1:p.Ala672Val
XM_005262644.1:c.1988C>T XP_005262701.1:p.Ala663Val
NM_175737.4:c.2015C>T MANE Select NP_783864.1:p.Ala672Val
Search 100 bp 5'
Search 100 bp 3'