Canonical Allele Identifier: CA247510680
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs556256769
gnomAD v2: 13-33598890-A-C
gnomAD v3: 13-33024752-A-C
gnomAD v4: 13-33024752-A-C
MyVariant Identifiers: chr13:g.33598890A>C (hg19) chr13:g.33024752A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33024752A>C , CM000675.2:g.33024752A>C GRCh38
NC_000013.10:g.33598890A>C , CM000675.1:g.33598890A>C GRCh37
NC_000013.9:g.32496890A>C NCBI36
NG_011485.1:g.13320A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.819+7493A>C MANE Select ENSP00000369442.3:n.819+7493A>C
ENST00000380099.3:c.819+7493A>C ENSP00000369442.3:n.819+7493A>C
ENST00000487852.1:n.827+7493A>C
NM_004795.3:c.819+7493A>C NP_004786.2:n.819+7493A>C
XM_006719895.1:c.-103+8439A>C XP_006719958.1:n.-103+8439A>C
XM_006719895.2:c.-103+8439A>C XP_006719958.1:n.-103+8439A>C
NM_004795.4:c.819+7493A>C MANE Select NP_004786.2:n.819+7493A>C
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