Canonical Allele Identifier: CA4131901

Gene: CARD11

Linked Data

• ClinVar Variation Id: 540987
• ClinVar RCV Id: RCV000651164 ; RCV001816631 ; RCV001508567 ; RCV003928116
• dbSNP Id: rs200741645
• ExAC: 7:2952912 G / A
• gnomAD v2: 7-2952912-G-A
• gnomAD v3: 7-2913278-G-A
• gnomAD v4: 7-2913278-G-A
• MyVariant Identifiers: chr7:g.2952912G>A (hg19) ; chr7:g.2913278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2913278G>A , CM000669.2:g.2913278G>A	GRCh38
NC_000007.13:g.2952912G>A , CM000669.1:g.2952912G>A	GRCh37
NC_000007.12:g.2919438G>A	NCBI36
NG_027759.1:g.135598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698637.1:n.4129+9C>T
ENST00000698652.1:n.1975+9C>T
ENST00000396946.9:c.3019+9C>T MANE Select	ENSP00000380150.4:n.3019+9C>T
ENST00000396946.8:c.3019+9C>T	ENSP00000380150.4:n.3019+9C>T
NM_032415.5:c.3019+9C>T	NP_115791.3:n.3019+9C>T
XM_011515585.1:c.3019+9C>T	XP_011513887.1:n.3019+9C>T
XM_011515586.1:c.3019+9C>T	XP_011513888.1:n.3019+9C>T
XM_011515587.1:c.3016+9C>T	XP_011513889.1:n.3016+9C>T
NM_001324281.1:c.3019+9C>T	NP_001311210.1:n.3019+9C>T
XM_011515586.2:c.3019+9C>T	XP_011513888.1:n.3019+9C>T
XM_011515587.2:c.3016+9C>T	XP_011513889.1:n.3016+9C>T
NM_001324281.2:c.3019+9C>T	NP_001311210.1:n.3019+9C>T
NM_032415.6:c.3019+9C>T	NP_115791.3:n.3019+9C>T
NM_001324281.3:c.3019+9C>T	NP_001311210.1:n.3019+9C>T
NM_032415.7:c.3019+9C>T MANE Select	NP_115791.3:n.3019+9C>T