Linked Data
ClinVar Variation Id:
2485833
ClinVar RCV Id:
RCV004277139
dbSNP Id:
rs773238831
ExAC:
3:3095498 A / T
gnomAD v2:
3-3095498-A-T
gnomAD v4:
3-3053814-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3053814A>T , CM000665.2:g.3053814A>T | GRCh38 |
| NC_000003.11:g.3095498A>T , CM000665.1:g.3095498A>T | GRCh37 |
| NC_000003.10:g.3070498A>T | NCBI36 |
| NG_012827.1:g.958252A>T | |
| NG_012827.2:g.958252A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418658.6:c.2819A>T (CNTN4) MANE Select | ENSP00000396010.1:p.Tyr940Phe | |
| ENST00000397459.6:c.1835A>T (CNTN4) | ENSP00000380600.2:p.Tyr612Phe | |
| ENST00000397461.5:c.2819A>T (CNTN4) | ENSP00000380602.1:p.Tyr940Phe | |
| ENST00000418658.5:c.2819A>T (CNTN4) | ENSP00000396010.1:p.Tyr940Phe | |
| ENST00000427331.5:c.2819A>T (CNTN4) | ENSP00000413642.1:p.Tyr940Phe | |
| ENST00000484686.1:n.1069A>T (CNTN4) | ||
| NM_001206955.1:c.2819A>T (CNTN4) | NP_001193884.1:p.Tyr940Phe | |
| NM_001206956.1:c.1832A>T (CNTN4) | NP_001193885.1:p.Tyr611Phe | |
| NM_175607.2:c.2819A>T (CNTN4) | NP_783200.1:p.Tyr940Phe | |
| NM_175613.2:c.1835A>T (CNTN4) | NP_783302.1:p.Tyr612Phe | |
| NR_046554.1:n.79+7253T>A (CNTN4-AS1) | ||
| XM_006713004.2:c.2816A>T (CNTN4) | XP_006713067.1:p.Tyr939Phe | |
| XM_011533425.1:c.2819A>T (CNTN4) | XP_011531727.1:p.Tyr940Phe | |
| XM_011533426.1:c.2819A>T (CNTN4) | XP_011531728.1:p.Tyr940Phe | |
| XM_011533427.1:c.2819A>T (CNTN4) | XP_011531729.1:p.Tyr940Phe | |
| XM_011533428.1:c.2819A>T (CNTN4) | XP_011531730.1:p.Tyr940Phe | |
| XM_011533429.1:c.2819A>T (CNTN4) | XP_011531731.1:p.Tyr940Phe | |
| XM_011533430.1:c.2819A>T (CNTN4) | XP_011531732.1:p.Tyr940Phe | |
| XM_011533431.1:c.2786A>T (CNTN4) | XP_011531733.1:p.Tyr929Phe | |
| NM_001350095.1:c.2819A>T (CNTN4) | NP_001337024.1:p.Tyr940Phe | |
| XM_006713004.4:c.2816A>T (CNTN4) | XP_006713067.1:p.Tyr939Phe | |
| XM_011533425.3:c.2819A>T (CNTN4) | XP_011531727.1:p.Tyr940Phe | |
| XM_011533427.2:c.2819A>T (CNTN4) | XP_011531729.1:p.Tyr940Phe | |
| XM_011533428.2:c.2819A>T (CNTN4) | XP_011531730.1:p.Tyr940Phe | |
| XM_011533429.2:c.2819A>T (CNTN4) | XP_011531731.1:p.Tyr940Phe | |
| XM_011533430.2:c.2819A>T (CNTN4) | XP_011531732.1:p.Tyr940Phe | |
| XM_011533431.2:c.2786A>T (CNTN4) | XP_011531733.1:p.Tyr929Phe | |
| XM_017005782.1:c.2819A>T (CNTN4) | XP_016861271.1:p.Tyr940Phe | |
| XM_017005783.1:c.2819A>T (CNTN4) | XP_016861272.1:p.Tyr940Phe | |
| XM_017005784.2:c.2819A>T (CNTN4) | XP_016861273.1:p.Tyr940Phe | |
| XM_017005785.1:c.2816A>T (CNTN4) | XP_016861274.1:p.Tyr939Phe | |
| XM_017005786.1:c.2816A>T (CNTN4) | XP_016861275.1:p.Tyr939Phe | |
| XM_017005787.1:c.2816A>T (CNTN4) | XP_016861276.1:p.Tyr939Phe | |
| NM_175607.3:c.2819A>T (CNTN4) MANE Select | NP_783200.1:p.Tyr940Phe | |
| NM_001206955.2:c.2819A>T (CNTN4) | NP_001193884.1:p.Tyr940Phe | |
| NM_001206956.2:c.1832A>T (CNTN4) | NP_001193885.1:p.Tyr611Phe | |
| NM_001350095.2:c.2819A>T (CNTN4) | NP_001337024.1:p.Tyr940Phe | |
| NM_175613.3:c.1835A>T (CNTN4) | NP_783302.1:p.Tyr612Phe |