Canonical Allele Identifier: CA439138015
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs1560654190
gnomAD v4: 4-39446754-G-C
MyVariant Identifiers: chr4:g.39448374G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446754G>C , CM000666.2:g.39446754G>C GRCh38
NC_000004.11:g.39448374G>C , CM000666.1:g.39448374G>C GRCh37
NC_000004.10:g.39124769G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2028G>C MANE Select ENSP00000257408.4:p.Leu676=
ENST00000257408.4:c.2028G>C ENSP00000257408.4:p.Leu676=
NM_175737.3:c.2028G>C NP_783864.1:p.Leu676=
XM_005262644.1:c.2001G>C XP_005262701.1:p.Leu667=
NM_175737.4:c.2028G>C MANE Select NP_783864.1:p.Leu676=
Search 100 bp 5'
Search 100 bp 3'