Canonical Allele Identifier: CA547386601

Gene: KPNA4

Linked Data

• dbSNP Id: rs1230533883
• gnomAD v2: 3-160226143-A-G
• gnomAD v4: 3-160508355-A-G
• MyVariant Identifiers: chr3:g.160226143A>G (hg19) ; chr3:g.160508355A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160508355A>G , CM000665.2:g.160508355A>G	GRCh38
NC_000003.11:g.160226143A>G , CM000665.1:g.160226143A>G	GRCh37
NC_000003.10:g.161708837A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334256.9:c.1210-86T>C MANE Select	ENSP00000334373.4:n.1210-86T>C
ENST00000483437.2:c.1210-86T>C	ENSP00000417172.2:n.1210-86T>C
ENST00000676799.1:c.*1159-86T>C	ENSP00000503839.1:n.*1159-86T>C
ENST00000676866.1:c.1138-86T>C	ENSP00000503291.1:n.1138-86T>C
ENST00000676958.1:c.1322-86T>C	ENSP00000503083.1:n.1322-86T>C
ENST00000678020.1:n.1390-86T>C
ENST00000678630.1:c.*1175-86T>C	ENSP00000504510.1:n.*1175-86T>C
ENST00000678765.1:c.1078-86T>C	ENSP00000503064.1:n.1078-86T>C
ENST00000334256.8:c.1210-86T>C	ENSP00000334373.4:n.1210-86T>C
ENST00000483437.1:c.253-86T>C	ENSP00000417172.1:n.253-86T>C
NM_002268.4:c.1210-86T>C	NP_002259.1:n.1210-86T>C
NM_002268.5:c.1210-86T>C MANE Select	NP_002259.1:n.1210-86T>C