Canonical Allele Identifier: CA143684
Gene: CARD11 HGNC NCBI

Linked Data

ClinVar Variation Id: 48647
ClinVar RCV Id: RCV000041968
dbSNP Id: rs387907351
gnomAD v3: 7-2944495-T-C
gnomAD v4: 7-2944495-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2944495T>C , CM000669.2:g.2944495T>C GRCh38
NC_000007.13:g.2984129T>C , CM000669.1:g.2984129T>C GRCh37
NC_000007.12:g.2950655T>C NCBI36
NG_027759.1:g.104381A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698637.1:n.727A>G
ENST00000698654.1:n.660A>G
ENST00000698662.1:n.601A>G
ENST00000396946.9:c.401A>G MANE Select ENSP00000380150.4:p.Glu134Gly
ENST00000396946.8:c.401A>G ENSP00000380150.4:p.Glu134Gly
NM_032415.5:c.401A>G NP_115791.3:p.Glu134Gly
XM_011515585.1:c.401A>G XP_011513887.1:p.Glu134Gly
XM_011515586.1:c.401A>G XP_011513888.1:p.Glu134Gly
XM_011515587.1:c.401A>G XP_011513889.1:p.Glu134Gly
NM_001324281.1:c.401A>G NP_001311210.1:p.Glu134Gly
XM_011515586.2:c.401A>G XP_011513888.1:p.Glu134Gly
XM_011515587.2:c.401A>G XP_011513889.1:p.Glu134Gly
XR_001744885.1:n.800A>G
NM_001324281.2:c.401A>G NP_001311210.1:p.Glu134Gly
NM_032415.6:c.401A>G NP_115791.3:p.Glu134Gly
NM_001324281.3:c.401A>G NP_001311210.1:p.Glu134Gly
NM_032415.7:c.401A>G MANE Select NP_115791.3:p.Glu134Gly