Canonical Allele Identifier: CA4131844
Community Standard Title: NM_032415.7(CARD11):c.3130G>T (p.Ala1044Ser)
Gene: CARD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2912186C>A , CM000669.2:g.2912186C>A GRCh38
NC_000007.13:g.2951820C>A , CM000669.1:g.2951820C>A GRCh37
NC_000007.12:g.2918346C>A NCBI36
NG_027759.1:g.136690G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032415.7:c.3130G>T MANE Select NP_115791.3:p.Ala1044Ser
ENST00000396946.9:c.3130G>T MANE Select ENSP00000380150.4:p.Ala1044Ser
NM_001324281.1:c.3130G>T NP_001311210.1:p.Ala1044Ser
NM_001324281.2:c.3130G>T NP_001311210.1:p.Ala1044Ser
NM_001324281.3:c.3130G>T NP_001311210.1:p.Ala1044Ser
NM_032415.5:c.3130G>T NP_115791.3:p.Ala1044Ser
NM_032415.6:c.3130G>T NP_115791.3:p.Ala1044Ser
ENST00000396946.8:c.3130G>T ENSP00000380150.4:p.Ala1044Ser
ENST00000698637.1:n.4240G>T
ENST00000698652.1:n.2086G>T
XM_011515585.1:c.3130G>T XP_011513887.1:p.Ala1044Ser
XM_011515586.1:c.3130G>T XP_011513888.1:p.Ala1044Ser
XM_011515586.2:c.3130G>T XP_011513888.1:p.Ala1044Ser
XM_011515587.1:c.3127G>T XP_011513889.1:p.Ala1043Ser
XM_011515587.2:c.3127G>T XP_011513889.1:p.Ala1043Ser