Canonical Allele Identifier: CA6944025

Gene: KL

Linked Data

• ClinVar Variation Id: 311690
• ClinVar RCV Id: RCV000323675 ; RCV001653529
• dbSNP Id: rs9536314
• ExAC: 13:33628138 T / G
• gnomAD v2: 13-33628138-T-G
• gnomAD v3: 13-33054001-T-G
• gnomAD v4: 13-33054001-T-G
• MyVariant Identifiers: chr13:g.33628138T>G (hg19) ; chr13:g.33054001T>G (hg38)
• PubMed: PMID:11792841

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33054001T>G , CM000675.2:g.33054001T>G	GRCh38
NC_000013.10:g.33628138T>G , CM000675.1:g.33628138T>G	GRCh37
NC_000013.9:g.32526138T>G	NCBI36
NG_011485.1:g.42568T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380099.4:c.1054T>G MANE Select	ENSP00000369442.3:p.Phe352Val
ENST00000380099.3:c.1054T>G	ENSP00000369442.3:p.Phe352Val
ENST00000487852.1:n.1062T>G
NM_004795.3:c.1054T>G	NP_004786.2:p.Phe352Val
XM_006719895.1:c.133T>G	XP_006719958.1:p.Phe45Val
XM_006719895.2:c.133T>G	XP_006719958.1:p.Phe45Val
NM_004795.4:c.1054T>G MANE Select	NP_004786.2:p.Phe352Val