Canonical Allele Identifier: CA2083133584

Gene: KL

Linked Data

• dbSNP Id: rs1870690805
• gnomAD v3: 13-33024567-C-T
• gnomAD v4: 13-33024567-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33024567C>T , CM000675.2:g.33024567C>T	GRCh38
NC_000013.10:g.33598705C>T , CM000675.1:g.33598705C>T	GRCh37
NC_000013.9:g.32496705C>T	NCBI36
NG_011485.1:g.13135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.819+7308C>T MANE Select	ENSP00000369442.3:n.819+7308C>T
ENST00000380099.3:c.819+7308C>T	ENSP00000369442.3:n.819+7308C>T
ENST00000487852.1:n.827+7308C>T
NM_004795.3:c.819+7308C>T	NP_004786.2:n.819+7308C>T
XM_006719895.1:c.-103+8254C>T	XP_006719958.1:n.-103+8254C>T
XM_006719895.2:c.-103+8254C>T	XP_006719958.1:n.-103+8254C>T
NM_004795.4:c.819+7308C>T MANE Select	NP_004786.2:n.819+7308C>T