Canonical Allele Identifier: CA6944028
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs763323263
ExAC: 13:33628161 C / A
gnomAD v2: 13-33628161-C-A
gnomAD v3: 13-33054024-C-A
gnomAD v4: 13-33054024-C-A
MyVariant Identifiers: chr13:g.33628161C>A (hg19) chr13:g.33054024C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33054024C>A , CM000675.2:g.33054024C>A GRCh38
NC_000013.10:g.33628161C>A , CM000675.1:g.33628161C>A GRCh37
NC_000013.9:g.32526161C>A NCBI36
NG_011485.1:g.42591C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1077C>A MANE Select ENSP00000369442.3:p.Phe359Leu
ENST00000380099.3:c.1077C>A ENSP00000369442.3:p.Phe359Leu
ENST00000487852.1:n.1085C>A
NM_004795.3:c.1077C>A NP_004786.2:p.Phe359Leu
XM_006719895.1:c.156C>A XP_006719958.1:p.Phe52Leu
XM_006719895.2:c.156C>A XP_006719958.1:p.Phe52Leu
NM_004795.4:c.1077C>A MANE Select NP_004786.2:p.Phe359Leu
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