Canonical Allele Identifier: CA4131809

Gene: CARD11

Linked Data

• ClinVar Variation Id: 473934
• ClinVar RCV Id: RCV000551661 ; RCV000853282 ; RCV001262448 ; RCV000788537 ; RCV001821609
• dbSNP Id: rs200456391
• ExAC: 7:2949802 G / A
• gnomAD v2: 7-2949802-G-A
• gnomAD v3: 7-2910168-G-A
• gnomAD v4: 7-2910168-G-A
• MyVariant Identifiers: chr7:g.2949802G>A (hg19) ; chr7:g.2910168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2910168G>A , CM000669.2:g.2910168G>A	GRCh38
NC_000007.13:g.2949802G>A , CM000669.1:g.2949802G>A	GRCh37
NC_000007.12:g.2916328G>A	NCBI36
NG_027759.1:g.138708C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698637.1:n.4255-3C>T
ENST00000698652.1:n.2101-3C>T
ENST00000396946.9:c.3145-3C>T MANE Select	ENSP00000380150.4:n.3145-3C>T
ENST00000396946.8:c.3145-3C>T	ENSP00000380150.4:n.3145-3C>T
NM_032415.5:c.3145-3C>T	NP_115791.3:n.3145-3C>T
XM_011515585.1:c.3145-3C>T	XP_011513887.1:n.3145-3C>T
XM_011515586.1:c.3145-3C>T	XP_011513888.1:n.3145-3C>T
XM_011515587.1:c.3142-3C>T	XP_011513889.1:n.3142-3C>T
NM_001324281.1:c.3145-3C>T	NP_001311210.1:n.3145-3C>T
XM_011515586.2:c.3145-3C>T	XP_011513888.1:n.3145-3C>T
XM_011515587.2:c.3142-3C>T	XP_011513889.1:n.3142-3C>T
NM_001324281.2:c.3145-3C>T	NP_001311210.1:n.3145-3C>T
NM_032415.6:c.3145-3C>T	NP_115791.3:n.3145-3C>T
NM_001324281.3:c.3145-3C>T	NP_001311210.1:n.3145-3C>T
NM_032415.7:c.3145-3C>T MANE Select	NP_115791.3:n.3145-3C>T