Canonical Allele Identifier: CA2893938
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs375585848
ExAC: 4:39448446 C / T
gnomAD v2: 4-39448446-C-T
gnomAD v3: 4-39446826-C-T
gnomAD v4: 4-39446826-C-T
MyVariant Identifiers: chr4:g.39448446C>T (hg19) chr4:g.39446826C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446826C>T , CM000666.2:g.39446826C>T GRCh38
NC_000004.11:g.39448446C>T , CM000666.1:g.39448446C>T GRCh37
NC_000004.10:g.39124841C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257408.5:c.2100C>T MANE Select ENSP00000257408.4:p.Ile700=
ENST00000257408.4:c.2100C>T ENSP00000257408.4:p.Ile700=
NM_175737.3:c.2100C>T NP_783864.1:p.Ile700=
XM_005262644.1:c.2073C>T XP_005262701.1:p.Ile691=
NM_175737.4:c.2100C>T MANE Select NP_783864.1:p.Ile700=
Search 100 bp 5'
Search 100 bp 3'