Canonical Allele Identifier: CA2893939
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs777594385
ExAC: 4:39448449 C / T
gnomAD v2: 4-39448449-C-T
gnomAD v4: 4-39446829-C-T
MyVariant Identifiers: chr4:g.39448449C>T (hg19) chr4:g.39446829C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446829C>T , CM000666.2:g.39446829C>T GRCh38
NC_000004.11:g.39448449C>T , CM000666.1:g.39448449C>T GRCh37
NC_000004.10:g.39124844C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000257408.5:c.2103C>T MANE Select ENSP00000257408.4:p.Tyr701=
ENST00000257408.4:c.2103C>T ENSP00000257408.4:p.Tyr701=
NM_175737.3:c.2103C>T NP_783864.1:p.Tyr701=
XM_005262644.1:c.2076C>T XP_005262701.1:p.Tyr692=
NM_175737.4:c.2103C>T MANE Select NP_783864.1:p.Tyr701=
Search 100 bp 5'
Search 100 bp 3'