Canonical Allele Identifier: CA2893970
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs764993311
ExAC: 4:39448592 C / A
gnomAD v2: 4-39448592-C-A
MyVariant Identifiers: chr4:g.39448592C>A (hg19) chr4:g.39446972C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446972C>A , CM000666.2:g.39446972C>A GRCh38
NC_000004.11:g.39448592C>A , CM000666.1:g.39448592C>A GRCh37
NC_000004.10:g.39124987C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2246C>A MANE Select ENSP00000257408.4:p.Pro749His
ENST00000257408.4:c.2246C>A ENSP00000257408.4:p.Pro749His
NM_175737.3:c.2246C>A NP_783864.1:p.Pro749His
XM_005262644.1:c.2219C>A XP_005262701.1:p.Pro740His
NM_175737.4:c.2246C>A MANE Select NP_783864.1:p.Pro749His
Search 100 bp 5'
Search 100 bp 3'