Canonical Allele Identifier: CA355202923
Gene: KPNA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160508269C>G , CM000665.2:g.160508269C>G GRCh38
NC_000003.11:g.160226057C>G , CM000665.1:g.160226057C>G GRCh37
NC_000003.10:g.161708751C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334256.9:c.1210G>C MANE Select ENSP00000334373.4:p.Val404Leu
ENST00000483437.2:c.1210G>C ENSP00000417172.2:p.Val404Leu
ENST00000676799.1:c.*1159G>C ENSP00000503839.1:n.*1159G>C
ENST00000676866.1:c.1138G>C ENSP00000503291.1:p.Val380Leu
ENST00000676958.1:c.1322G>C ENSP00000503083.1:n.1322G>C
ENST00000678020.1:n.1390G>C
ENST00000678630.1:c.*1175G>C ENSP00000504510.1:n.*1175G>C
ENST00000678765.1:c.1078G>C ENSP00000503064.1:p.Val360Leu
ENST00000334256.8:c.1210G>C ENSP00000334373.4:p.Val404Leu
ENST00000483437.1:c.253G>C ENSP00000417172.1:p.Val85Leu
NM_002268.4:c.1210G>C NP_002259.1:p.Val404Leu
NM_002268.5:c.1210G>C MANE Select NP_002259.1:p.Val404Leu