Canonical Allele Identifier: CA13909577
Gene: KL HGNC NCBI

Linked Data

ClinVar Variation Id: 1178589
ClinVar RCV Id: RCV001534907
dbSNP Id: rs9527029
gnomAD v2: 13-33629657-C-T
gnomAD v3: 13-33055520-C-T
gnomAD v4: 13-33055520-C-T
MyVariant Identifiers: chr13:g.33629657C>T (hg19) chr13:g.33055520C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055520C>T , CM000675.2:g.33055520C>T GRCh38
NC_000013.10:g.33629657C>T , CM000675.1:g.33629657C>T GRCh37
NC_000013.9:g.32527657C>T NCBI36
NG_011485.1:g.44087C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+205C>T MANE Select ENSP00000369442.3:n.1599+205C>T
ENST00000380099.3:c.1599+205C>T ENSP00000369442.3:n.1599+205C>T
ENST00000487852.1:n.1657+155C>T
NM_004795.3:c.1599+205C>T NP_004786.2:n.1599+205C>T
XM_006719895.1:c.678+205C>T XP_006719958.1:n.678+205C>T
XM_006719895.2:c.678+205C>T XP_006719958.1:n.678+205C>T
NM_004795.4:c.1599+205C>T MANE Select NP_004786.2:n.1599+205C>T
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