Canonical Allele Identifier: CA4132172
Community Standard Title: NM_032415.7(CARD11):c.2239G>A (p.Val747Ile)
Gene: CARD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2922664C>T , CM000669.2:g.2922664C>T GRCh38
NC_000007.13:g.2962298C>T , CM000669.1:g.2962298C>T GRCh37
NC_000007.12:g.2928824C>T NCBI36
NG_027759.1:g.126212G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032415.7:c.2239G>A MANE Select NP_115791.3:p.Val747Ile
ENST00000396946.9:c.2239G>A MANE Select ENSP00000380150.4:p.Val747Ile
NM_001324281.1:c.2239G>A NP_001311210.1:p.Val747Ile
NM_001324281.2:c.2239G>A NP_001311210.1:p.Val747Ile
NM_001324281.3:c.2239G>A NP_001311210.1:p.Val747Ile
NM_032415.5:c.2239G>A NP_115791.3:p.Val747Ile
NM_032415.6:c.2239G>A NP_115791.3:p.Val747Ile
ENST00000355508.3:c.652G>A ENSP00000347695.3:p.Val218Ile
ENST00000396946.8:c.2239G>A ENSP00000380150.4:p.Val747Ile
ENST00000480332.1:n.377G>A
ENST00000698637.1:n.2565G>A
ENST00000698652.1:n.66G>A
XM_011515585.1:c.2239G>A XP_011513887.1:p.Val747Ile
XM_011515586.1:c.2239G>A XP_011513888.1:p.Val747Ile
XM_011515586.2:c.2239G>A XP_011513888.1:p.Val747Ile
XM_011515587.1:c.2236G>A XP_011513889.1:p.Val746Ile
XM_011515587.2:c.2236G>A XP_011513889.1:p.Val746Ile
XR_001744885.1:n.2638G>A