Canonical Allele Identifier: CA145372
Gene: CARD9 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136370380G>A
GRCh37 chr9:g.139264832G>A
gnomAD v2:
9:139264832 G / A
gnomAD v3:
9:136370380 G / A
gnomAD v4:
chr9-136370380-G-A
Joint Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.00002995 (AMR)
ClinVar RCV:
RCV000074440
ClinVar Variation:
88852
dbSNP:
398122363
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136370380G>A , CM000671.2:g.136370380G>A GRCh38
NC_000009.11:g.139264832G>A , CM000671.1:g.139264832G>A GRCh37
NC_000009.10:g.138384653G>A NCBI36
NG_021197.1:g.8302C>T , LRG_178:g.8302C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000641290.2:n.870C>T
ENST00000695905.1:n.993C>T
ENST00000695906.1:n.993C>T
ENST00000696169.1:c.865C>T ENSP00000512460.1:p.Gln289Ter
ENST00000371732.10:c.865C>T MANE Select ENSP00000360797.5:p.Gln289Ter
ENST00000371732.9:c.865C>T ENSP00000360797.5:p.Gln289Ter
ENST00000371734.7:c.865C>T ENSP00000360799.3:p.Gln289Ter
ENST00000481053.5:n.994C>T
ENST00000485975.1:n.375C>T
ENST00000489932.2:c.865C>T ENSP00000451368.1:p.Gln289Ter
NM_052813.4:c.865C>T , LRG_178t1:c.865C>T NP_434700.2:p.Gln289Ter
NM_052814.3:c.865C>T NP_434701.1:p.Gln289Ter
NM_052813.5:c.865C>T MANE Select NP_434700.2:p.Gln289Ter
NM_052814.4:c.865C>T NP_434701.1:p.Gln289Ter
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