Canonical Allele Identifier: CA356657142
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs1743756967
gnomAD v3: 4-39446762-A-G
gnomAD v4: 4-39446762-A-G
MyVariant Identifiers: chr4:g.39448382A>G (hg19) chr4:g.39446762A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446762A>G , CM000666.2:g.39446762A>G GRCh38
NC_000004.11:g.39448382A>G , CM000666.1:g.39448382A>G GRCh37
NC_000004.10:g.39124777A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2036A>G MANE Select ENSP00000257408.4:p.Gln679Arg
ENST00000257408.4:c.2036A>G ENSP00000257408.4:p.Gln679Arg
NM_175737.3:c.2036A>G NP_783864.1:p.Gln679Arg
XM_005262644.1:c.2009A>G XP_005262701.1:p.Gln670Arg
NM_175737.4:c.2036A>G MANE Select NP_783864.1:p.Gln679Arg
Search 100 bp 5'
Search 100 bp 3'