Canonical Allele Identifier: CA4132318

Gene: CARD11

Linked Data

• ClinVar Variation Id: 540969
• ClinVar RCV Id: RCV000651142 ; RCV001535758 ; RCV003965392
• dbSNP Id: rs41368548
• ExAC: 7:2966370 T / C
• gnomAD v2: 7-2966370-T-C
• gnomAD v3: 7-2926736-T-C
• gnomAD v4: 7-2926736-T-C
• MyVariant Identifiers: chr7:g.2966370T>C (hg19) ; chr7:g.2926736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2926736T>C , CM000669.2:g.2926736T>C	GRCh38
NC_000007.13:g.2966370T>C , CM000669.1:g.2966370T>C	GRCh37
NC_000007.12:g.2932896T>C	NCBI36
NG_027759.1:g.122140A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698637.1:n.2133+3A>G
ENST00000396946.9:c.1807+3A>G MANE Select	ENSP00000380150.4:n.1807+3A>G
ENST00000355508.3:c.220+3A>G	ENSP00000347695.3:n.220+3A>G
ENST00000396946.8:c.1807+3A>G	ENSP00000380150.4:n.1807+3A>G
NM_032415.5:c.1807+3A>G	NP_115791.3:n.1807+3A>G
XM_011515585.1:c.1807+3A>G	XP_011513887.1:n.1807+3A>G
XM_011515586.1:c.1807+3A>G	XP_011513888.1:n.1807+3A>G
XM_011515587.1:c.1804+3A>G	XP_011513889.1:n.1804+3A>G
NM_001324281.1:c.1807+3A>G	NP_001311210.1:n.1807+3A>G
XM_011515586.2:c.1807+3A>G	XP_011513888.1:n.1807+3A>G
XM_011515587.2:c.1804+3A>G	XP_011513889.1:n.1804+3A>G
XR_001744885.1:n.2206+3A>G
NM_001324281.2:c.1807+3A>G	NP_001311210.1:n.1807+3A>G
NM_032415.6:c.1807+3A>G	NP_115791.3:n.1807+3A>G
NM_001324281.3:c.1807+3A>G	NP_001311210.1:n.1807+3A>G
NM_032415.7:c.1807+3A>G MANE Select	NP_115791.3:n.1807+3A>G