Canonical Allele Identifier: CA954748423
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1870705142
gnomAD v3: 13-33024796-T-C
gnomAD v4: 13-33024796-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33024796T>C , CM000675.2:g.33024796T>C GRCh38
NC_000013.10:g.33598934T>C , CM000675.1:g.33598934T>C GRCh37
NC_000013.9:g.32496934T>C NCBI36
NG_011485.1:g.13364T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.819+7537T>C MANE Select ENSP00000369442.3:n.819+7537T>C
ENST00000380099.3:c.819+7537T>C ENSP00000369442.3:n.819+7537T>C
ENST00000487852.1:n.827+7537T>C
NM_004795.3:c.819+7537T>C NP_004786.2:n.819+7537T>C
XM_006719895.1:c.-103+8483T>C XP_006719958.1:n.-103+8483T>C
XM_006719895.2:c.-103+8483T>C XP_006719958.1:n.-103+8483T>C
NM_004795.4:c.819+7537T>C MANE Select NP_004786.2:n.819+7537T>C
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