Canonical Allele Identifier: CA145368
Gene: CARD9 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136371432C>T
GRCh37 chr9:g.139265884C>T
Revel Score:
ENST00000371734 0.729
ENST00000371732 (MANE Select) 0.729
ENST00000315908 0.729
gnomAD v3:
9:136371432 C / T
gnomAD v4:
chr9-136371432-C-T
Joint Max Group AF 0.00000383 (SAS)
Exomes Max Group AF 0.00000404 (SAS)
ClinVar RCV:
RCV000074438
ClinVar Variation:
88850
dbSNP:
398122362
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136371432C>T , CM000671.2:g.136371432C>T GRCh38
NC_000009.11:g.139265884C>T , CM000671.1:g.139265884C>T GRCh37
NC_000009.10:g.138385705C>T NCBI36
NG_021197.1:g.7250G>A , LRG_178:g.7250G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000641290.2:n.219G>A
ENST00000695905.1:n.342G>A
ENST00000695906.1:n.342G>A
ENST00000695908.1:n.333G>A
ENST00000696169.1:c.214G>A ENSP00000512460.1:p.Gly72Ser
ENST00000371732.10:c.214G>A MANE Select ENSP00000360797.5:p.Gly72Ser
ENST00000641290.1:c.-99G>A ENSP00000493113.1:n.-99G>A
ENST00000371732.9:c.214G>A ENSP00000360797.5:p.Gly72Ser
ENST00000371734.7:c.214G>A ENSP00000360799.3:p.Gly72Ser
ENST00000481053.5:n.343G>A
ENST00000489932.2:c.214G>A ENSP00000451368.1:p.Gly72Ser
ENST00000556340.1:n.345G>A
NM_052813.4:c.214G>A , LRG_178t1:c.214G>A NP_434700.2:p.Gly72Ser
NM_052814.3:c.214G>A NP_434701.1:p.Gly72Ser
NM_052813.5:c.214G>A MANE Select NP_434700.2:p.Gly72Ser
NM_052814.4:c.214G>A NP_434701.1:p.Gly72Ser
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