Canonical Allele Identifier: CA550728710
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs1384348109
gnomAD v2: 4-39432165-T-C
gnomAD v3: 4-39430545-T-C
gnomAD v4: 4-39430545-T-C
MyVariant Identifiers: chr4:g.39432165T>C (hg19) chr4:g.39430545T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39430545T>C , CM000666.2:g.39430545T>C GRCh38
NC_000004.11:g.39432165T>C , CM000666.1:g.39432165T>C GRCh37
NC_000004.10:g.39108560T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000257408.5:c.826-3665T>C MANE Select ENSP00000257408.4:n.826-3665T>C
ENST00000257408.4:c.826-3665T>C ENSP00000257408.4:n.826-3665T>C
NM_175737.3:c.826-3665T>C NP_783864.1:n.826-3665T>C
XM_005262644.1:c.826-3665T>C XP_005262701.1:n.826-3665T>C
NM_175737.4:c.826-3665T>C MANE Select NP_783864.1:n.826-3665T>C
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