Canonical Allele Identifier: CA6944104
Gene: KL HGNC NCBI

Linked Data

ClinVar Variation Id: 883027
ClinVar RCV Id: RCV001113165 RCV002069825 RCV003963055
dbSNP Id: rs144181834
ExAC: 13:33629272 G / A
gnomAD v2: 13-33629272-G-A
gnomAD v3: 13-33055135-G-A
gnomAD v4: 13-33055135-G-A
MyVariant Identifiers: chr13:g.33629272G>A (hg19) chr13:g.33055135G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055135G>A , CM000675.2:g.33055135G>A GRCh38
NC_000013.10:g.33629272G>A , CM000675.1:g.33629272G>A GRCh37
NC_000013.9:g.32527272G>A NCBI36
NG_011485.1:g.43702G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1419G>A MANE Select ENSP00000369442.3:p.Arg473=
ENST00000380099.3:c.1419G>A ENSP00000369442.3:p.Arg473=
ENST00000487852.1:n.1427G>A
NM_004795.3:c.1419G>A NP_004786.2:p.Arg473=
XM_006719895.1:c.498G>A XP_006719958.1:p.Arg166=
XM_006719895.2:c.498G>A XP_006719958.1:p.Arg166=
NM_004795.4:c.1419G>A MANE Select NP_004786.2:p.Arg473=
Search 100 bp 5'
Search 100 bp 3'