Canonical Allele Identifier: CA95700151
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs561105209
gnomAD v3: 4-39430535-C-G
gnomAD v4: 4-39430535-C-G
MyVariant Identifiers: chr4:g.39432155C>G (hg19) chr4:g.39430535C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39430535C>G , CM000666.2:g.39430535C>G GRCh38
NC_000004.11:g.39432155C>G , CM000666.1:g.39432155C>G GRCh37
NC_000004.10:g.39108550C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.826-3675C>G MANE Select ENSP00000257408.4:n.826-3675C>G
ENST00000257408.4:c.826-3675C>G ENSP00000257408.4:n.826-3675C>G
NM_175737.3:c.826-3675C>G NP_783864.1:n.826-3675C>G
XM_005262644.1:c.826-3675C>G XP_005262701.1:n.826-3675C>G
NM_175737.4:c.826-3675C>G MANE Select NP_783864.1:n.826-3675C>G
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