Canonical Allele Identifier: CA145370
Gene: CARD9 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136367788C>G
GRCh37 chr9:g.139262240C>G
Revel Score:
ENST00000371734 0.181
ENST00000371732 (MANE Select) 0.181
gnomAD v2:
9:139262240 C / G
gnomAD v3:
9:136367788 C / G
gnomAD v4:
chr9-136367788-C-G
Joint Max Group AF 0.00022325 (EAS)
Exomes Max Group AF 0.00023297 (EAS)
ClinVar RCV:
RCV000074439
ClinVar Variation:
88851
dbSNP:
149712114
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000641290.2:n.1123G>C
ENST00000695905.1:n.1246G>C
ENST00000695906.1:n.1246G>C
ENST00000695907.1:n.17G>C
ENST00000696169.1:c.*165G>C ENSP00000512460.1:n.*165G>C
ENST00000371732.10:c.1118G>C MANE Select ENSP00000360797.5:p.Arg373Pro
ENST00000371732.9:c.1118G>C ENSP00000360797.5:p.Arg373Pro
ENST00000371734.7:c.1118G>C ENSP00000360799.3:p.Arg373Pro
ENST00000481053.5:n.1395G>C
ENST00000485975.1:n.1194G>C
ENST00000489932.2:c.*165G>C ENSP00000451368.1:n.*165G>C
NM_052813.4:c.1118G>C , LRG_178t1:c.1118G>C NP_434700.2:p.Arg373Pro
NM_052814.3:c.1118G>C NP_434701.1:p.Arg373Pro
NM_052813.5:c.1118G>C MANE Select NP_434700.2:p.Arg373Pro
NM_052814.4:c.1118G>C NP_434701.1:p.Arg373Pro
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