Canonical Allele Identifier: CA5333266
Gene: CARD9 HGNC NCBI
COSMIC:
COSM455594 (not active)
COSM3736479 (not active)
MyVariant.info:
GRCh38 chr9:g.136372044C>T
GRCh37 chr9:g.139266496C>T
Revel Score:
ENST00000371734 0.010
ENST00000371732 (MANE Select) 0.010
ENST00000315908 0.010
gnomAD v2:
9:139266496 C / T
gnomAD v3:
9:136372044 C / T
gnomAD v4:
chr9-136372044-C-T
Joint Max Group AF 0.51480244 (AMR)
Genomes Max Group AF 0.46543533 (AMR)
Exomes Max Group AF 0.52937465 (AMR)
ClinVar RCV:
RCV000408113
RCV000454561
ClinVar Variation:
365858
dbSNP:
4077515
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136372044C>T , CM000671.2:g.136372044C>T GRCh38
NC_000009.11:g.139266496C>T , CM000671.1:g.139266496C>T GRCh37
NC_000009.10:g.138386317C>T NCBI36
NG_021197.1:g.6638G>A , LRG_178:g.6638G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000641290.2:n.114-74G>A
ENST00000695905.1:n.163G>A
ENST00000695906.1:n.163G>A
ENST00000695908.1:n.154G>A
ENST00000696169.1:c.35G>A ENSP00000512460.1:p.Ser12Asn
ENST00000371732.10:c.35G>A MANE Select ENSP00000360797.5:p.Ser12Asn
ENST00000641290.1:c.-204-74G>A ENSP00000493113.1:n.-204-74G>A
ENST00000371732.9:c.35G>A ENSP00000360797.5:p.Ser12Asn
ENST00000371734.7:c.35G>A ENSP00000360799.3:p.Ser12Asn
ENST00000481053.5:n.164G>A
ENST00000489932.2:c.35G>A ENSP00000451368.1:p.Ser12Asn
ENST00000556340.1:n.166G>A
NM_052813.4:c.35G>A , LRG_178t1:c.35G>A NP_434700.2:p.Ser12Asn
NM_052814.3:c.35G>A NP_434701.1:p.Ser12Asn
NM_052813.5:c.35G>A MANE Select NP_434700.2:p.Ser12Asn
NM_052814.4:c.35G>A NP_434701.1:p.Ser12Asn
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