Canonical Allele Identifier: CA16042655
Gene: MAP3K7 HGNC NCBI

Linked Data

ClinVar Variation Id: 372406
ClinVar RCV Id: RCV000414538
dbSNP Id: rs1057517758

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.90556586C>T , CM000668.2:g.90556586C>T GRCh38
NC_000006.11:g.91266305C>T , CM000668.1:g.91266305C>T GRCh37
NC_000006.10:g.91323026C>T NCBI36
NG_011966.2:g.35603G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700580.1:c.521G>A ENSP00000515074.1:p.Cys174Tyr
ENST00000700581.1:c.521G>A ENSP00000515075.1:p.Cys174Tyr
ENST00000700582.1:c.*376G>A ENSP00000515076.1:n.*376G>A
ENST00000700583.1:c.*127G>A ENSP00000515077.1:n.*127G>A
ENST00000700584.1:c.*482G>A ENSP00000515078.1:n.*482G>A
ENST00000700587.1:c.*460G>A ENSP00000515080.1:n.*460G>A
ENST00000700588.1:n.587G>A
ENST00000700589.1:c.521G>A ENSP00000515081.1:p.Cys174Tyr
ENST00000700590.1:n.710G>A
ENST00000700591.1:c.455G>A ENSP00000515082.1:p.Cys152Tyr
ENST00000700592.1:c.596G>A ENSP00000515083.1:p.Cys199Tyr
ENST00000700593.1:c.212G>A ENSP00000515084.1:p.Cys71Tyr
ENST00000700594.1:c.*275G>A ENSP00000515085.1:n.*275G>A
ENST00000703100.1:c.521G>A ENSP00000515168.1:p.Cys174Tyr
ENST00000703101.1:c.120+30178G>A ENSP00000515169.1:n.120+30178G>A
ENST00000369329.8:c.521G>A MANE Select ENSP00000358335.3:p.Cys174Tyr
ENST00000369325.7:c.521G>A ENSP00000358331.3:p.Cys174Tyr
ENST00000369327.7:c.521G>A ENSP00000358333.3:p.Cys174Tyr
ENST00000369329.7:c.521G>A ENSP00000358335.3:p.Cys174Tyr
ENST00000369332.7:c.521G>A ENSP00000358338.3:p.Cys174Tyr
NM_003188.3:c.521G>A NP_003179.1:p.Cys174Tyr
NM_145331.2:c.521G>A NP_663304.1:p.Cys174Tyr
NM_145332.2:c.521G>A NP_663305.1:p.Cys174Tyr
NM_145333.2:c.521G>A NP_663306.1:p.Cys174Tyr
XM_006715553.2:c.131G>A XP_006715616.1:p.Cys44Tyr
XM_006715553.3:c.131G>A XP_006715616.1:p.Cys44Tyr
XM_017011226.2:c.131G>A XP_016866715.1:p.Cys44Tyr
NM_145331.3:c.521G>A MANE Select NP_663304.1:p.Cys174Tyr
NM_003188.4:c.521G>A NP_003179.1:p.Cys174Tyr
NM_145332.3:c.521G>A NP_663305.1:p.Cys174Tyr
NM_145333.3:c.521G>A NP_663306.1:p.Cys174Tyr