Canonical Allele Identifier: CA4131738
Community Standard Title: NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile)
Gene: CARD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2906721C>T , CM000669.2:g.2906721C>T GRCh38
NC_000007.13:g.2946355C>T , CM000669.1:g.2946355C>T GRCh37
NC_000007.12:g.2912881C>T NCBI36
NG_027759.1:g.142155G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032415.7:c.3382G>A MANE Select NP_115791.3:p.Val1128Ile
ENST00000396946.9:c.3382G>A MANE Select ENSP00000380150.4:p.Val1128Ile
NM_001324281.1:c.3382G>A NP_001311210.1:p.Val1128Ile
NM_001324281.2:c.3382G>A NP_001311210.1:p.Val1128Ile
NM_001324281.3:c.3382G>A NP_001311210.1:p.Val1128Ile
NM_032415.5:c.3382G>A NP_115791.3:p.Val1128Ile
NM_032415.6:c.3382G>A NP_115791.3:p.Val1128Ile
ENST00000396946.8:c.3382G>A ENSP00000380150.4:p.Val1128Ile
ENST00000698637.1:n.4492G>A
ENST00000698652.1:n.2338G>A
XM_011515585.1:c.3382G>A XP_011513887.1:p.Val1128Ile
XM_011515586.1:c.3382G>A XP_011513888.1:p.Val1128Ile
XM_011515586.2:c.3382G>A XP_011513888.1:p.Val1128Ile
XM_011515587.1:c.3379G>A XP_011513889.1:p.Val1127Ile
XM_011515587.2:c.3379G>A XP_011513889.1:p.Val1127Ile