Canonical Allele Identifier: CA13963636
Gene: MAP3K9 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.70727436C>T
GRCh37 chr14:g.71194153C>T
gnomAD v2:
14:71194153 C / T
gnomAD v3:
14:70727436 C / T
gnomAD v4:
chr14-70727436-C-T
Joint Max Group AF 0.34054158 (NFE)
Genomes Max Group AF 0.34063023 (NFE)
Exomes Max Group AF 0.10670909 (NFE)
dbSNP:
11625206
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.70727436C>T , CM000676.2:g.70727436C>T GRCh38
NC_000014.8:g.71194153C>T , CM000676.1:g.71194153C>T GRCh37
NC_000014.7:g.70263906C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554752.7:c.*2944G>A MANE Select ENSP00000451612.2:n.*2944G>A
ENST00000554752.6:c.6259G>A ENSP00000451612.2:n.6259G>A
ENST00000611979.4:c.5587G>A ENSP00000480011.1:n.5587G>A
NM_001284230.1:c.6259G>A NP_001271159.1:n.6259G>A
NM_001284231.1:c.*2944G>A NP_001271160.1:n.*2944G>A
NM_001284232.1:c.*2944G>A NP_001271161.1:n.*2944G>A
NM_033141.3:c.6301G>A NP_149132.2:n.6301G>A
XM_005267683.3:c.*2944G>A XP_005267740.1:n.*2944G>A
XM_011536788.1:c.*2944G>A XP_011535090.1:n.*2944G>A
XM_011536789.1:c.*2944G>A XP_011535091.1:n.*2944G>A
XM_011536790.1:c.*2944G>A XP_011535092.1:n.*2944G>A
XM_011536791.1:c.*2944G>A XP_011535093.1:n.*2944G>A
XM_011536792.1:c.*2944G>A XP_011535094.1:n.*2944G>A
XM_011536793.1:c.*2944G>A XP_011535095.1:n.*2944G>A
XM_011536794.1:c.*2944G>A XP_011535096.1:n.*2944G>A
XM_005267683.5:c.*2944G>A XP_005267740.1:n.*2944G>A
XM_011536788.3:c.*2944G>A XP_011535090.1:n.*2944G>A
XM_011536794.2:c.*2944G>A XP_011535096.1:n.*2944G>A
NM_033141.4:c.*2944G>A NP_149132.2:n.*2944G>A
NM_001284230.2:c.*2944G>A MANE Select NP_001271159.1:n.*2944G>A
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