Canonical Allele Identifier: CA373761319
Community Standard Title: NM_001201380.3(CNTNAP3B):c.3589G>C (p.Val1197Leu)
Gene: CNTNAP3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.41898853C>G , CM000671.2:g.41898853C>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
NM_001201380.3:c.3589G>C MANE Select NP_001188309.2:p.Val1197Leu
ENST00000377561.7:c.3589G>C MANE Select ENSP00000478671.2:p.Val1197Leu
NM_001201380.2:c.3589G>C NP_001188309.2:p.Val1197Leu
ENST00000377561.6:c.3589G>C ENSP00000478671.1:p.Val1197Leu
ENST00000467854.1:n.1092G>C
ENST00000476961.5:c.348-320G>C
ENST00000484254.1:n.620G>C
ENST00000612828.4:c.3346G>C ENSP00000483830.1:p.Val1116Leu
ENST00000619138.4:c.*353G>C ENSP00000482254.1:n.*353G>C
XM_006716853.2:c.3619G>C XP_006716916.1:p.Val1207Leu
XM_006716855.2:c.3586G>C XP_006716918.1:p.Val1196Leu
XM_011518012.1:c.3742G>C XP_011516314.1:p.Val1248Leu
XM_011518013.1:c.3739G>C XP_011516315.1:p.Val1247Leu
XM_011518014.1:c.3712G>C XP_011516316.1:p.Val1238Leu
XM_011518015.1:c.3463G>C XP_011516317.1:p.Val1155Leu
XM_011518016.1:c.3460G>C XP_011516318.1:p.Val1154Leu
XM_011518017.1:c.3343G>C XP_011516319.1:p.Val1115Leu
XM_011518018.1:c.3340G>C XP_011516320.1:p.Val1114Leu
XM_011518020.1:c.3139G>C XP_011516322.1:p.Val1047Leu
XM_011518022.1:c.2935G>C XP_011516324.1:p.Val979Leu
XM_011518024.1:c.2677G>C XP_011516326.1:p.Val893Leu