Canonical Allele Identifier: CA6944123
Gene: KL HGNC NCBI

Linked Data

ClinVar Variation Id: 311696
ClinVar RCV Id: RCV000325550 RCV000957169
dbSNP Id: rs62637617
ExAC: 13:33629446 C / T
gnomAD v2: 13-33629446-C-T
gnomAD v3: 13-33055309-C-T
gnomAD v4: 13-33055309-C-T
MyVariant Identifiers: chr13:g.33629446C>T (hg19) chr13:g.33055309C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055309C>T , CM000675.2:g.33055309C>T GRCh38
NC_000013.10:g.33629446C>T , CM000675.1:g.33629446C>T GRCh37
NC_000013.9:g.32527446C>T NCBI36
NG_011485.1:g.43876C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1593C>T MANE Select ENSP00000369442.3:p.Tyr531=
ENST00000380099.3:c.1593C>T ENSP00000369442.3:p.Tyr531=
ENST00000487852.1:n.1601C>T
NM_004795.3:c.1593C>T NP_004786.2:p.Tyr531=
XM_006719895.1:c.672C>T XP_006719958.1:p.Tyr224=
XM_006719895.2:c.672C>T XP_006719958.1:p.Tyr224=
NM_004795.4:c.1593C>T MANE Select NP_004786.2:p.Tyr531=
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