Canonical Allele Identifier: CA6944034
Gene: KL HGNC NCBI
COSMIC:
COSM5001929 (not active)
COSM5001930 (not active)
MyVariant.info:
GRCh38 chr13:g.33054056G>C
GRCh37 chr13:g.33628193G>C
Revel Score:
ENST00000426690 0.152
ENST00000380099 (MANE Select) 0.152
gnomAD v2:
13:33628193 G / C
gnomAD v3:
13:33054056 G / C
gnomAD v4:
chr13-33054056-G-C
Joint Max Group AF 0.17838934 (AFR)
Genomes Max Group AF 0.17973948 (AFR)
Exomes Max Group AF 0.17437167 (AFR)
ClinVar RCV:
RCV000362065
RCV001723894
ClinVar Variation:
311691
dbSNP:
9527025
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33054056G>C , CM000675.2:g.33054056G>C GRCh38
NC_000013.10:g.33628193G>C , CM000675.1:g.33628193G>C GRCh37
NC_000013.9:g.32526193G>C NCBI36
NG_011485.1:g.42623G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1109G>C MANE Select ENSP00000369442.3:p.Cys370Ser
ENST00000380099.3:c.1109G>C ENSP00000369442.3:p.Cys370Ser
ENST00000487852.1:n.1117G>C
NM_004795.3:c.1109G>C NP_004786.2:p.Cys370Ser
XM_006719895.1:c.188G>C XP_006719958.1:p.Cys63Ser
XM_006719895.2:c.188G>C XP_006719958.1:p.Cys63Ser
NM_004795.4:c.1109G>C MANE Select NP_004786.2:p.Cys370Ser
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