Canonical Allele Identifier: CA157818

Gene: CARD11

Linked Data

• ClinVar Variation Id: 133792
• ClinVar RCV Id: RCV000120443 ; RCV000707585 ; RCV002492420 ; RCV004019674
• dbSNP Id: rs143049136
• ExAC: 7:2962789 G / A
• gnomAD v2: 7-2962789-G-A
• gnomAD v3: 7-2923155-G-A
• gnomAD v4: 7-2923155-G-A
• COSMIC: COSM1622759
• MyVariant Identifiers: chr7:g.2962789G>A (hg19) ; chr7:g.2923155G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2923155G>A , CM000669.2:g.2923155G>A	GRCh38
NC_000007.13:g.2962789G>A , CM000669.1:g.2962789G>A	GRCh37
NC_000007.12:g.2929315G>A	NCBI36
NG_027759.1:g.125721C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698637.1:n.2445C>T
ENST00000396946.9:c.2119C>T MANE Select	ENSP00000380150.4:p.Arg707Cys
ENST00000355508.3:c.532C>T	ENSP00000347695.3:p.Arg178Cys
ENST00000396946.8:c.2119C>T	ENSP00000380150.4:p.Arg707Cys
NM_032415.5:c.2119C>T	NP_115791.3:p.Arg707Cys
XM_011515585.1:c.2119C>T	XP_011513887.1:p.Arg707Cys
XM_011515586.1:c.2119C>T	XP_011513888.1:p.Arg707Cys
XM_011515587.1:c.2116C>T	XP_011513889.1:p.Arg706Cys
NM_001324281.1:c.2119C>T	NP_001311210.1:p.Arg707Cys
XM_011515586.2:c.2119C>T	XP_011513888.1:p.Arg707Cys
XM_011515587.2:c.2116C>T	XP_011513889.1:p.Arg706Cys
XR_001744885.1:n.2518C>T
NM_001324281.2:c.2119C>T	NP_001311210.1:p.Arg707Cys
NM_032415.6:c.2119C>T	NP_115791.3:p.Arg707Cys
NM_001324281.3:c.2119C>T	NP_001311210.1:p.Arg707Cys
NM_032415.7:c.2119C>T MANE Select	NP_115791.3:p.Arg707Cys