Canonical Allele Identifier: CA6943984
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs766611991
ExAC: 13:33627943 C / T
gnomAD v2: 13-33627943-C-T
gnomAD v3: 13-33053806-C-T
gnomAD v4: 13-33053806-C-T
MyVariant Identifiers: chr13:g.33627943C>T (hg19) chr13:g.33053806C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053806C>T , CM000675.2:g.33053806C>T GRCh38
NC_000013.10:g.33627943C>T , CM000675.1:g.33627943C>T GRCh37
NC_000013.9:g.32525943C>T NCBI36
NG_011485.1:g.42373C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.859C>T MANE Select ENSP00000369442.3:p.Arg287Cys
ENST00000380099.3:c.859C>T ENSP00000369442.3:p.Arg287Cys
ENST00000487852.1:n.867C>T
NM_004795.3:c.859C>T NP_004786.2:p.Arg287Cys
XM_006719895.1:c.-63C>T XP_006719958.1:n.-63C>T
XM_006719895.2:c.-63C>T XP_006719958.1:n.-63C>T
NM_004795.4:c.859C>T MANE Select NP_004786.2:p.Arg287Cys
Search 100 bp 5'
Search 100 bp 3'