Canonical Allele Identifier: CA6944105
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs758701481
ExAC: 13:33629273 C / A
gnomAD v2: 13-33629273-C-A
gnomAD v4: 13-33055136-C-A
COSMIC: COSM1677603
MyVariant Identifiers: chr13:g.33629273C>A (hg19) chr13:g.33055136C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055136C>A , CM000675.2:g.33055136C>A GRCh38
NC_000013.10:g.33629273C>A , CM000675.1:g.33629273C>A GRCh37
NC_000013.9:g.32527273C>A NCBI36
NG_011485.1:g.43703C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1420C>A MANE Select ENSP00000369442.3:p.Arg474Ser
ENST00000380099.3:c.1420C>A ENSP00000369442.3:p.Arg474Ser
ENST00000487852.1:n.1428C>A
NM_004795.3:c.1420C>A NP_004786.2:p.Arg474Ser
XM_006719895.1:c.499C>A XP_006719958.1:p.Arg167Ser
XM_006719895.2:c.499C>A XP_006719958.1:p.Arg167Ser
NM_004795.4:c.1420C>A MANE Select NP_004786.2:p.Arg474Ser
Search 100 bp 5'
Search 100 bp 3'