Canonical Allele Identifier: CA4132786
Community Standard Title: NM_032415.7(CARD11):c.583G>C (p.Val195Leu)
Gene: CARD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2944313C>G , CM000669.2:g.2944313C>G GRCh38
NC_000007.13:g.2983947C>G , CM000669.1:g.2983947C>G GRCh37
NC_000007.12:g.2950473C>G NCBI36
NG_027759.1:g.104563G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032415.7:c.583G>C MANE Select NP_115791.3:p.Val195Leu
ENST00000396946.9:c.583G>C MANE Select ENSP00000380150.4:p.Val195Leu
NM_001324281.1:c.583G>C NP_001311210.1:p.Val195Leu
NM_001324281.2:c.583G>C NP_001311210.1:p.Val195Leu
NM_001324281.3:c.583G>C NP_001311210.1:p.Val195Leu
NM_032415.5:c.583G>C NP_115791.3:p.Val195Leu
NM_032415.6:c.583G>C NP_115791.3:p.Val195Leu
ENST00000396946.8:c.583G>C ENSP00000380150.4:p.Val195Leu
ENST00000698637.1:n.909G>C
ENST00000698654.1:n.842G>C
ENST00000698662.1:n.783G>C
XM_011515585.1:c.583G>C XP_011513887.1:p.Val195Leu
XM_011515586.1:c.583G>C XP_011513888.1:p.Val195Leu
XM_011515586.2:c.583G>C XP_011513888.1:p.Val195Leu
XM_011515587.1:c.583G>C XP_011513889.1:p.Val195Leu
XM_011515587.2:c.583G>C XP_011513889.1:p.Val195Leu
XR_001744885.1:n.982G>C