Canonical Allele Identifier: CA16618340
Gene: MAP3K7 HGNC NCBI

Linked Data

ClinVar Variation Id: 422420
ClinVar RCV Id: RCV000478415
dbSNP Id: rs1064795771

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.90561646C>T , CM000668.2:g.90561646C>T GRCh38
NC_000006.11:g.91271365C>T , CM000668.1:g.91271365C>T GRCh37
NC_000006.10:g.91328086C>T NCBI36
NG_011966.2:g.30543G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700580.1:c.319G>A ENSP00000515074.1:p.Ala107Thr
ENST00000700581.1:c.319G>A ENSP00000515075.1:p.Ala107Thr
ENST00000700582.1:c.319G>A ENSP00000515076.1:p.Ala107Thr
ENST00000700583.1:c.319G>A ENSP00000515077.1:p.Ala107Thr
ENST00000700584.1:c.*280G>A ENSP00000515078.1:n.*280G>A
ENST00000700587.1:c.*258G>A ENSP00000515080.1:n.*258G>A
ENST00000700588.1:n.385G>A
ENST00000700589.1:c.319G>A ENSP00000515081.1:p.Ala107Thr
ENST00000700590.1:n.508G>A
ENST00000700591.1:c.253G>A ENSP00000515082.1:p.Ala85Thr
ENST00000700592.1:c.394G>A ENSP00000515083.1:p.Ala132Thr
ENST00000700593.1:c.10G>A ENSP00000515084.1:p.Ala4Thr
ENST00000700594.1:c.*53G>A ENSP00000515085.1:n.*53G>A
ENST00000703100.1:c.319G>A ENSP00000515168.1:p.Ala107Thr
ENST00000703101.1:c.120+25118G>A ENSP00000515169.1:n.120+25118G>A
ENST00000369329.8:c.319G>A MANE Select ENSP00000358335.3:p.Ala107Thr
ENST00000369325.7:c.319G>A ENSP00000358331.3:p.Ala107Thr
ENST00000369327.7:c.319G>A ENSP00000358333.3:p.Ala107Thr
ENST00000369329.7:c.319G>A ENSP00000358335.3:p.Ala107Thr
ENST00000369332.7:c.319G>A ENSP00000358338.3:p.Ala107Thr
NM_003188.3:c.319G>A NP_003179.1:p.Ala107Thr
NM_145331.2:c.319G>A NP_663304.1:p.Ala107Thr
NM_145332.2:c.319G>A NP_663305.1:p.Ala107Thr
NM_145333.2:c.319G>A NP_663306.1:p.Ala107Thr
XM_006715553.2:c.-92G>A XP_006715616.1:n.-92G>A
XM_006715553.3:c.-92G>A XP_006715616.1:n.-92G>A
XM_017011226.2:c.-92G>A XP_016866715.1:n.-92G>A
NM_145331.3:c.319G>A MANE Select NP_663304.1:p.Ala107Thr
NM_003188.4:c.319G>A NP_003179.1:p.Ala107Thr
NM_145332.3:c.319G>A NP_663305.1:p.Ala107Thr
NM_145333.3:c.319G>A NP_663306.1:p.Ala107Thr