Canonical Allele Identifier: CA954735879

Gene: KL

Linked Data

• dbSNP Id: rs1871923891
• gnomAD v3: 13-33055434-C-T
• gnomAD v4: 13-33055434-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055434C>T , CM000675.2:g.33055434C>T	GRCh38
NC_000013.10:g.33629571C>T , CM000675.1:g.33629571C>T	GRCh37
NC_000013.9:g.32527571C>T	NCBI36
NG_011485.1:g.44001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1599+119C>T MANE Select	ENSP00000369442.3:n.1599+119C>T
ENST00000380099.3:c.1599+119C>T	ENSP00000369442.3:n.1599+119C>T
ENST00000487852.1:n.1657+69C>T
NM_004795.3:c.1599+119C>T	NP_004786.2:n.1599+119C>T
XM_006719895.1:c.678+119C>T	XP_006719958.1:n.678+119C>T
XM_006719895.2:c.678+119C>T	XP_006719958.1:n.678+119C>T
NM_004795.4:c.1599+119C>T MANE Select	NP_004786.2:n.1599+119C>T