Canonical Allele Identifier: CA366647263

Gene: CARD11

Linked Data

• ClinVar Variation Id: 473936
• ClinVar RCV Id: RCV000540112 ; RCV003456414
• dbSNP Id: rs1554276147
• COSMIC: COSM220933
• MyVariant Identifiers: chr7:g.2984142A>T (hg19) ; chr7:g.2944508A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2944508A>T , CM000669.2:g.2944508A>T	GRCh38
NC_000007.13:g.2984142A>T , CM000669.1:g.2984142A>T	GRCh37
NC_000007.12:g.2950668A>T	NCBI36
NG_027759.1:g.104368T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698637.1:n.714T>A
ENST00000698654.1:n.647T>A
ENST00000698662.1:n.588T>A
ENST00000396946.9:c.388T>A MANE Select	ENSP00000380150.4:p.Phe130Ile
ENST00000396946.8:c.388T>A	ENSP00000380150.4:p.Phe130Ile
NM_032415.5:c.388T>A	NP_115791.3:p.Phe130Ile
XM_011515585.1:c.388T>A	XP_011513887.1:p.Phe130Ile
XM_011515586.1:c.388T>A	XP_011513888.1:p.Phe130Ile
XM_011515587.1:c.388T>A	XP_011513889.1:p.Phe130Ile
NM_001324281.1:c.388T>A	NP_001311210.1:p.Phe130Ile
XM_011515586.2:c.388T>A	XP_011513888.1:p.Phe130Ile
XM_011515587.2:c.388T>A	XP_011513889.1:p.Phe130Ile
XR_001744885.1:n.787T>A
NM_001324281.2:c.388T>A	NP_001311210.1:p.Phe130Ile
NM_032415.6:c.388T>A	NP_115791.3:p.Phe130Ile
NM_001324281.3:c.388T>A	NP_001311210.1:p.Phe130Ile
NM_032415.7:c.388T>A MANE Select	NP_115791.3:p.Phe130Ile