Canonical Allele Identifier: CA355202839
Gene: KPNA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160508252T>A , CM000665.2:g.160508252T>A GRCh38
NC_000003.11:g.160226040T>A , CM000665.1:g.160226040T>A GRCh37
NC_000003.10:g.161708734T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334256.9:c.1227A>T MANE Select ENSP00000334373.4:p.Gln409His
ENST00000483437.2:c.1227A>T ENSP00000417172.2:p.Gln409His
ENST00000676799.1:c.*1176A>T ENSP00000503839.1:n.*1176A>T
ENST00000676866.1:c.1155A>T ENSP00000503291.1:p.Gln385His
ENST00000676958.1:c.1339A>T ENSP00000503083.1:n.1339A>T
ENST00000678020.1:n.1407A>T
ENST00000678630.1:c.*1192A>T ENSP00000504510.1:n.*1192A>T
ENST00000678765.1:c.1095A>T ENSP00000503064.1:p.Gln365His
ENST00000334256.8:c.1227A>T ENSP00000334373.4:p.Gln409His
ENST00000483437.1:c.270A>T ENSP00000417172.1:p.Gln90His
NM_002268.4:c.1227A>T NP_002259.1:p.Gln409His
NM_002268.5:c.1227A>T MANE Select NP_002259.1:p.Gln409His