Canonical Allele Identifier: CA6944273
Gene: KL HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.33061326T>C
GRCh37 chr13:g.33635463T>C
gnomAD v2:
13:33635463 T / C
gnomAD v3:
13:33061326 T / C
gnomAD v4:
chr13-33061326-T-C
Joint Max Group AF 0.85449273 (NFE)
Genomes Max Group AF 0.84931306 (NFE)
Exomes Max Group AF 0.85449703 (NFE)
ClinVar RCV:
RCV000294071
RCV001535326
ClinVar Variation:
311701
dbSNP:
648202
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33061326T>C , CM000675.2:g.33061326T>C GRCh38
NC_000013.10:g.33635463T>C , CM000675.1:g.33635463T>C GRCh37
NC_000013.9:g.32533463T>C NCBI36
NG_011485.1:g.49893T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.2247T>C MANE Select ENSP00000369442.3:p.Ala749=
ENST00000380099.3:c.2247T>C ENSP00000369442.3:p.Ala749=
ENST00000487852.1:n.2305T>C
NM_004795.3:c.2247T>C NP_004786.2:p.Ala749=
XM_006719895.1:c.1326T>C XP_006719958.1:p.Ala442=
XM_006719895.2:c.1326T>C XP_006719958.1:p.Ala442=
NM_004795.4:c.2247T>C MANE Select NP_004786.2:p.Ala749=
Search 100 bp 5'
Search 100 bp 3'