Canonical Allele Identifier: CA2893956
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs777488149
ExAC: 4:39448536 C / T
gnomAD v2: 4-39448536-C-T
gnomAD v3: 4-39446916-C-T
gnomAD v4: 4-39446916-C-T
MyVariant Identifiers: chr4:g.39448536C>T (hg19) chr4:g.39446916C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446916C>T , CM000666.2:g.39446916C>T GRCh38
NC_000004.11:g.39448536C>T , CM000666.1:g.39448536C>T GRCh37
NC_000004.10:g.39124931C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2190C>T MANE Select ENSP00000257408.4:p.Phe730=
ENST00000257408.4:c.2190C>T ENSP00000257408.4:p.Phe730=
NM_175737.3:c.2190C>T NP_783864.1:p.Phe730=
XM_005262644.1:c.2163C>T XP_005262701.1:p.Phe721=
NM_175737.4:c.2190C>T MANE Select NP_783864.1:p.Phe730=
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