Canonical Allele Identifier: CA247515636

Gene: KL

Linked Data

• dbSNP Id: rs890902646
• gnomAD v3: 13-33036515-C-T
• gnomAD v4: 13-33036515-C-T
• MyVariant Identifiers: chr13:g.33610652C>T (hg19) ; chr13:g.33036515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33036515C>T , CM000675.2:g.33036515C>T	GRCh38
NC_000013.10:g.33610652C>T , CM000675.1:g.33610652C>T	GRCh37
NC_000013.9:g.32508652C>T	NCBI36
NG_011485.1:g.25082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.820-17252C>T MANE Select	ENSP00000369442.3:n.820-17252C>T
ENST00000380099.3:c.820-17252C>T	ENSP00000369442.3:n.820-17252C>T
ENST00000487852.1:n.828-17252C>T
NM_004795.3:c.820-17252C>T	NP_004786.2:n.820-17252C>T
XM_006719895.1:c.-102-17252C>T	XP_006719958.1:n.-102-17252C>T
XM_006719895.2:c.-102-17252C>T	XP_006719958.1:n.-102-17252C>T
NM_004795.4:c.820-17252C>T MANE Select	NP_004786.2:n.820-17252C>T