Canonical Allele Identifier: CA6944366
Gene: KL HGNC NCBI
COSMIC:
COSN20336742 (not active)
MyVariant.info:
GRCh38 chr13:g.33061802T>A
GRCh37 chr13:g.33635939T>A
gnomAD v2:
13:33635939 T / A
gnomAD v3:
13:33061802 T / A
gnomAD v4:
chr13-33061802-T-A
Joint Max Group AF 0.85491551 (NFE)
Genomes Max Group AF 0.85002981 (NFE)
Exomes Max Group AF 0.85490076 (NFE)
ClinVar Allele:
1211872
ClinVar RCV:
RCV001598393
RCV001730863
ClinVar Variation:
1222763
dbSNP:
650439
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33061802T>A , CM000675.2:g.33061802T>A GRCh38
NC_000013.10:g.33635939T>A , CM000675.1:g.33635939T>A GRCh37
NC_000013.9:g.32533939T>A NCBI36
NG_011485.1:g.50369T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.2701+22T>A MANE Select ENSP00000369442.3:n.2701+22T>A
ENST00000380099.3:c.2701+22T>A ENSP00000369442.3:n.2701+22T>A
ENST00000487852.1:n.2759+22T>A
NM_004795.3:c.2701+22T>A NP_004786.2:n.2701+22T>A
XM_006719895.1:c.1780+22T>A XP_006719958.1:n.1780+22T>A
XM_006719895.2:c.1780+22T>A XP_006719958.1:n.1780+22T>A
NM_004795.4:c.2701+22T>A MANE Select NP_004786.2:n.2701+22T>A
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