Canonical Allele Identifier: CA366645723
Community Standard Title: NM_032415.7(CARD11):c.1040T>C (p.Leu347Pro)
Gene: CARD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2938010A>G , CM000669.2:g.2938010A>G GRCh38
NC_000007.13:g.2977644A>G , CM000669.1:g.2977644A>G GRCh37
NC_000007.12:g.2944170A>G NCBI36
NG_027759.1:g.110866T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032415.7:c.1040T>C MANE Select NP_115791.3:p.Leu347Pro
ENST00000396946.9:c.1040T>C MANE Select ENSP00000380150.4:p.Leu347Pro
NM_001324281.1:c.1040T>C NP_001311210.1:p.Leu347Pro
NM_001324281.2:c.1040T>C NP_001311210.1:p.Leu347Pro
NM_001324281.3:c.1040T>C NP_001311210.1:p.Leu347Pro
NM_032415.5:c.1040T>C NP_115791.3:p.Leu347Pro
NM_032415.6:c.1040T>C NP_115791.3:p.Leu347Pro
ENST00000396946.8:c.1040T>C ENSP00000380150.4:p.Leu347Pro
ENST00000698637.1:n.1366T>C
ENST00000698654.1:n.1299T>C
ENST00000698662.1:n.1240T>C
XM_011515585.1:c.1040T>C XP_011513887.1:p.Leu347Pro
XM_011515586.1:c.1040T>C XP_011513888.1:p.Leu347Pro
XM_011515586.2:c.1040T>C XP_011513888.1:p.Leu347Pro
XM_011515587.1:c.1040T>C XP_011513889.1:p.Leu347Pro
XM_011515587.2:c.1040T>C XP_011513889.1:p.Leu347Pro
XR_001744885.1:n.1439T>C