Canonical Allele Identifier: CA2578693986
Gene: MAP3K7 HGNC NCBI

Linked Data

gnomAD v4: 6-90518622-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.90518622T>A , CM000668.2:g.90518622T>A GRCh38
NC_000006.11:g.91228341T>A , CM000668.1:g.91228341T>A GRCh37
NC_000006.10:g.91285062T>A NCBI36
NG_011966.2:g.73567A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700580.1:c.1444-60A>T ENSP00000515074.1:n.1444-60A>T
ENST00000700581.1:c.*666-60A>T ENSP00000515075.1:n.*666-60A>T
ENST00000700582.1:c.*1380-60A>T ENSP00000515076.1:n.*1380-60A>T
ENST00000700583.1:c.*1050-60A>T ENSP00000515077.1:n.*1050-60A>T
ENST00000700584.1:c.*1405-60A>T ENSP00000515078.1:n.*1405-60A>T
ENST00000700585.1:c.485-60A>T ENSP00000515079.1:n.485-60A>T
ENST00000700586.1:n.1195-60A>T
ENST00000700587.1:c.*1464-60A>T ENSP00000515080.1:n.*1464-60A>T
ENST00000700588.1:n.1510-60A>T
ENST00000700589.1:c.*848-60A>T ENSP00000515081.1:n.*848-60A>T
ENST00000700591.1:c.1378-60A>T ENSP00000515082.1:n.1378-60A>T
ENST00000700592.1:c.1519-60A>T ENSP00000515083.1:n.1519-60A>T
ENST00000700593.1:c.1135-60A>T ENSP00000515084.1:n.1135-60A>T
ENST00000700594.1:c.*1279-60A>T ENSP00000515085.1:n.*1279-60A>T
ENST00000703099.1:n.991-60A>T
ENST00000703100.1:c.*858-60A>T ENSP00000515168.1:n.*858-60A>T
ENST00000703101.1:c.289-60A>T ENSP00000515169.1:n.289-60A>T
ENST00000369329.8:c.1525-60A>T MANE Select ENSP00000358335.3:n.1525-60A>T
ENST00000369320.1:c.487-60A>T ENSP00000358326.1:n.487-60A>T
ENST00000369325.7:c.1524+636A>T ENSP00000358331.3:n.1524+636A>T
ENST00000369327.7:c.1443+636A>T ENSP00000358333.3:n.1443+636A>T
ENST00000369329.7:c.1525-60A>T ENSP00000358335.3:n.1525-60A>T
ENST00000369332.7:c.1444-60A>T ENSP00000358338.3:n.1444-60A>T
ENST00000479630.1:n.1051-60A>T
NM_003188.3:c.1444-60A>T NP_003179.1:n.1444-60A>T
NM_145331.2:c.1525-60A>T NP_663304.1:n.1525-60A>T
NM_145332.2:c.1524+636A>T NP_663305.1:n.1524+636A>T
NM_145333.2:c.1443+636A>T NP_663306.1:n.1443+636A>T
XM_006715553.2:c.1135-60A>T XP_006715616.1:n.1135-60A>T
XM_006715553.3:c.1135-60A>T XP_006715616.1:n.1135-60A>T
XM_017011226.2:c.1054-60A>T XP_016866715.1:n.1054-60A>T
NM_145331.3:c.1525-60A>T MANE Select NP_663304.1:n.1525-60A>T
NM_003188.4:c.1444-60A>T NP_003179.1:n.1444-60A>T
NM_145332.3:c.1524+636A>T NP_663305.1:n.1524+636A>T
NM_145333.3:c.1443+636A>T NP_663306.1:n.1443+636A>T