Canonical Allele Identifier: CA2679708034
Gene: MAP3K7 HGNC NCBI

Linked Data

gnomAD v4: 6-90518582-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.90518582T>C , CM000668.2:g.90518582T>C GRCh38
NC_000006.11:g.91228301T>C , CM000668.1:g.91228301T>C GRCh37
NC_000006.10:g.91285022T>C NCBI36
NG_011966.2:g.73607A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700580.1:c.1444-20A>G ENSP00000515074.1:n.1444-20A>G
ENST00000700581.1:c.*666-20A>G ENSP00000515075.1:n.*666-20A>G
ENST00000700582.1:c.*1380-20A>G ENSP00000515076.1:n.*1380-20A>G
ENST00000700583.1:c.*1050-20A>G ENSP00000515077.1:n.*1050-20A>G
ENST00000700584.1:c.*1405-20A>G ENSP00000515078.1:n.*1405-20A>G
ENST00000700585.1:c.485-20A>G ENSP00000515079.1:n.485-20A>G
ENST00000700586.1:n.1195-20A>G
ENST00000700587.1:c.*1464-20A>G ENSP00000515080.1:n.*1464-20A>G
ENST00000700588.1:n.1510-20A>G
ENST00000700589.1:c.*848-20A>G ENSP00000515081.1:n.*848-20A>G
ENST00000700591.1:c.1378-20A>G ENSP00000515082.1:n.1378-20A>G
ENST00000700592.1:c.1519-20A>G ENSP00000515083.1:n.1519-20A>G
ENST00000700593.1:c.1135-20A>G ENSP00000515084.1:n.1135-20A>G
ENST00000700594.1:c.*1279-20A>G ENSP00000515085.1:n.*1279-20A>G
ENST00000703099.1:n.991-20A>G
ENST00000703100.1:c.*858-20A>G ENSP00000515168.1:n.*858-20A>G
ENST00000703101.1:c.289-20A>G ENSP00000515169.1:n.289-20A>G
ENST00000369329.8:c.1525-20A>G MANE Select ENSP00000358335.3:n.1525-20A>G
ENST00000369320.1:c.487-20A>G ENSP00000358326.1:n.487-20A>G
ENST00000369325.7:c.1524+676A>G ENSP00000358331.3:n.1524+676A>G
ENST00000369327.7:c.1443+676A>G ENSP00000358333.3:n.1443+676A>G
ENST00000369329.7:c.1525-20A>G ENSP00000358335.3:n.1525-20A>G
ENST00000369332.7:c.1444-20A>G ENSP00000358338.3:n.1444-20A>G
ENST00000479630.1:n.1051-20A>G
NM_003188.3:c.1444-20A>G NP_003179.1:n.1444-20A>G
NM_145331.2:c.1525-20A>G NP_663304.1:n.1525-20A>G
NM_145332.2:c.1524+676A>G NP_663305.1:n.1524+676A>G
NM_145333.2:c.1443+676A>G NP_663306.1:n.1443+676A>G
XM_006715553.2:c.1135-20A>G XP_006715616.1:n.1135-20A>G
XM_006715553.3:c.1135-20A>G XP_006715616.1:n.1135-20A>G
XM_017011226.2:c.1054-20A>G XP_016866715.1:n.1054-20A>G
NM_145331.3:c.1525-20A>G MANE Select NP_663304.1:n.1525-20A>G
NM_003188.4:c.1444-20A>G NP_003179.1:n.1444-20A>G
NM_145332.3:c.1524+676A>G NP_663305.1:n.1524+676A>G
NM_145333.3:c.1443+676A>G NP_663306.1:n.1443+676A>G