Canonical Allele Identifier: CA247510687

Gene: KL

Linked Data

• dbSNP Id: rs143451760
• gnomAD v3: 13-33024785-C-T
• gnomAD v4: 13-33024785-C-T
• MyVariant Identifiers: chr13:g.33598923C>T (hg19) ; chr13:g.33024785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33024785C>T , CM000675.2:g.33024785C>T	GRCh38
NC_000013.10:g.33598923C>T , CM000675.1:g.33598923C>T	GRCh37
NC_000013.9:g.32496923C>T	NCBI36
NG_011485.1:g.13353C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380099.4:c.819+7526C>T MANE Select	ENSP00000369442.3:n.819+7526C>T
ENST00000380099.3:c.819+7526C>T	ENSP00000369442.3:n.819+7526C>T
ENST00000487852.1:n.827+7526C>T
NM_004795.3:c.819+7526C>T	NP_004786.2:n.819+7526C>T
XM_006719895.1:c.-103+8472C>T	XP_006719958.1:n.-103+8472C>T
XM_006719895.2:c.-103+8472C>T	XP_006719958.1:n.-103+8472C>T
NM_004795.4:c.819+7526C>T MANE Select	NP_004786.2:n.819+7526C>T