Canonical Allele Identifier: CA439138149
Gene: KLB HGNC NCBI

Linked Data

gnomAD v4: 4-39446814-G-T
MyVariant Identifiers: chr4:g.39448434G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446814G>T , CM000666.2:g.39446814G>T GRCh38
NC_000004.11:g.39448434G>T , CM000666.1:g.39448434G>T GRCh37
NC_000004.10:g.39124829G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2088G>T MANE Select ENSP00000257408.4:p.Arg696=
ENST00000257408.4:c.2088G>T ENSP00000257408.4:p.Arg696=
NM_175737.3:c.2088G>T NP_783864.1:p.Arg696=
XM_005262644.1:c.2061G>T XP_005262701.1:p.Arg687=
NM_175737.4:c.2088G>T MANE Select NP_783864.1:p.Arg696=
Search 100 bp 5'
Search 100 bp 3'