Canonical Allele Identifier: CA356657221
Gene: KLB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39448404G>C (hg19) chr4:g.39446784G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446784G>C , CM000666.2:g.39446784G>C GRCh38
NC_000004.11:g.39448404G>C , CM000666.1:g.39448404G>C GRCh37
NC_000004.10:g.39124799G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2058G>C MANE Select ENSP00000257408.4:p.Lys686Asn
ENST00000257408.4:c.2058G>C ENSP00000257408.4:p.Lys686Asn
NM_175737.3:c.2058G>C NP_783864.1:p.Lys686Asn
XM_005262644.1:c.2031G>C XP_005262701.1:p.Lys677Asn
NM_175737.4:c.2058G>C MANE Select NP_783864.1:p.Lys686Asn
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