Canonical Allele Identifier: CA157842

Gene: CARD11

Linked Data

• ClinVar Variation Id: 133804
• ClinVar RCV Id: RCV000120455 ; RCV000704118 ; RCV001532097
• dbSNP Id: rs147264763
• ExAC: 7:2983958 T / C
• gnomAD v2: 7-2983958-T-C
• gnomAD v3: 7-2944324-T-C
• gnomAD v4: 7-2944324-T-C
• COSMIC: COSM30440
• MyVariant Identifiers: chr7:g.2983958T>C (hg19) ; chr7:g.2944324T>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2944324T>C , CM000669.2:g.2944324T>C	GRCh38
NC_000007.13:g.2983958T>C , CM000669.1:g.2983958T>C	GRCh37
NC_000007.12:g.2950484T>C	NCBI36
NG_027759.1:g.104552A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698637.1:n.898A>G
ENST00000698654.1:n.831A>G
ENST00000698662.1:n.772A>G
ENST00000396946.9:c.572A>G MANE Select	ENSP00000380150.4:p.Asn191Ser
ENST00000396946.8:c.572A>G	ENSP00000380150.4:p.Asn191Ser
NM_032415.5:c.572A>G	NP_115791.3:p.Asn191Ser
XM_011515585.1:c.572A>G	XP_011513887.1:p.Asn191Ser
XM_011515586.1:c.572A>G	XP_011513888.1:p.Asn191Ser
XM_011515587.1:c.572A>G	XP_011513889.1:p.Asn191Ser
NM_001324281.1:c.572A>G	NP_001311210.1:p.Asn191Ser
XM_011515586.2:c.572A>G	XP_011513888.1:p.Asn191Ser
XM_011515587.2:c.572A>G	XP_011513889.1:p.Asn191Ser
XR_001744885.1:n.971A>G
NM_001324281.2:c.572A>G	NP_001311210.1:p.Asn191Ser
NM_032415.6:c.572A>G	NP_115791.3:p.Asn191Ser
NM_001324281.3:c.572A>G	NP_001311210.1:p.Asn191Ser
NM_032415.7:c.572A>G MANE Select	NP_115791.3:p.Asn191Ser