Canonical Allele Identifier: CA2893958
Gene: KLB HGNC NCBI

Linked Data

ClinVar Variation Id: 1542991
ClinVar RCV Id: RCV002179853
dbSNP Id: rs7685429
ExAC: 4:39448542 C / G
gnomAD v2: 4-39448542-C-G
gnomAD v3: 4-39446922-C-G
gnomAD v4: 4-39446922-C-G
MyVariant Identifiers: chr4:g.39448542C>G (hg19) chr4:g.39446922C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446922C>G , CM000666.2:g.39446922C>G GRCh38
NC_000004.11:g.39448542C>G , CM000666.1:g.39448542C>G GRCh37
NC_000004.10:g.39124937C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000257408.5:c.2196C>G MANE Select ENSP00000257408.4:p.Pro732=
ENST00000257408.4:c.2196C>G ENSP00000257408.4:p.Pro732=
NM_175737.3:c.2196C>G NP_783864.1:p.Pro732=
XM_005262644.1:c.2169C>G XP_005262701.1:p.Pro723=
NM_175737.4:c.2196C>G MANE Select NP_783864.1:p.Pro732=
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