Canonical Allele Identifier: CA5332821
Gene: CARD9 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136367788C>T
GRCh37 chr9:g.139262240C>T
Revel Score:
ENST00000371734 0.021
ENST00000371732 (MANE Select) 0.021
gnomAD v2:
9:139262240 C / T
gnomAD v3:
9:136367788 C / T
gnomAD v4:
chr9-136367788-C-T
Joint Max Group AF 0.00024094 (EAS)
Genomes Max Group AF 0.00015717 (EAS)
Exomes Max Group AF 0.00021282 (EAS)
ClinVar RCV:
RCV001061631
ClinVar Variation:
856220
dbSNP:
149712114
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136367788C>T , CM000671.2:g.136367788C>T GRCh38
NC_000009.11:g.139262240C>T , CM000671.1:g.139262240C>T GRCh37
NC_000009.10:g.138382061C>T NCBI36
NG_021197.1:g.10894G>A , LRG_178:g.10894G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000641290.2:n.1123G>A
ENST00000695905.1:n.1246G>A
ENST00000695906.1:n.1246G>A
ENST00000695907.1:n.17G>A
ENST00000696169.1:c.*165G>A ENSP00000512460.1:n.*165G>A
ENST00000371732.10:c.1118G>A MANE Select ENSP00000360797.5:p.Arg373Gln
ENST00000371732.9:c.1118G>A ENSP00000360797.5:p.Arg373Gln
ENST00000371734.7:c.1118G>A ENSP00000360799.3:p.Arg373Gln
ENST00000481053.5:n.1395G>A
ENST00000485975.1:n.1194G>A
ENST00000489932.2:c.*165G>A ENSP00000451368.1:n.*165G>A
NM_052813.4:c.1118G>A , LRG_178t1:c.1118G>A NP_434700.2:p.Arg373Gln
NM_052814.3:c.1118G>A NP_434701.1:p.Arg373Gln
NM_052813.5:c.1118G>A MANE Select NP_434700.2:p.Arg373Gln
NM_052814.4:c.1118G>A NP_434701.1:p.Arg373Gln
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