Canonical Allele Identifier: CA13808836
Gene: KL HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.33053623A>G
GRCh37 chr13:g.33627760A>G
gnomAD v2:
13:33627760 A / G
gnomAD v3:
13:33053623 A / G
gnomAD v4:
chr13-33053623-A-G
Joint Max Group AF 0.45485555 (EAS)
Genomes Max Group AF 0.43608347 (EAS)
Exomes Max Group AF 0.45583065 (EAS)
ClinVar RCV:
RCV001617673
ClinVar Variation:
1233548
dbSNP:
7323281
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053623A>G , CM000675.2:g.33053623A>G GRCh38
NC_000013.10:g.33627760A>G , CM000675.1:g.33627760A>G GRCh37
NC_000013.9:g.32525760A>G NCBI36
NG_011485.1:g.42190A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.820-144A>G MANE Select ENSP00000369442.3:n.820-144A>G
ENST00000380099.3:c.820-144A>G ENSP00000369442.3:n.820-144A>G
ENST00000487852.1:n.828-144A>G
NM_004795.3:c.820-144A>G NP_004786.2:n.820-144A>G
XM_006719895.1:c.-102-144A>G XP_006719958.1:n.-102-144A>G
XM_006719895.2:c.-102-144A>G XP_006719958.1:n.-102-144A>G
NM_004795.4:c.820-144A>G MANE Select NP_004786.2:n.820-144A>G
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