Linked Data
ClinVar Variation Id:
3146764
ClinVar RCV Id:
RCV004442134
dbSNP Id:
rs371362562
ExAC:
3:3085293 G / A
gnomAD v2:
3-3085293-G-A
gnomAD v3:
3-3043609-G-A
gnomAD v4:
3-3043609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3043609G>A , CM000665.2:g.3043609G>A | GRCh38 |
| NC_000003.11:g.3085293G>A , CM000665.1:g.3085293G>A | GRCh37 |
| NC_000003.10:g.3060293G>A | NCBI36 |
| NG_012827.1:g.948047G>A | |
| NG_012827.2:g.948047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418658.6:c.2716G>A (CNTN4) MANE Select | ENSP00000396010.1:p.Gly906Arg | |
| ENST00000397459.6:c.1732G>A (CNTN4) | ENSP00000380600.2:p.Gly578Arg | |
| ENST00000397461.5:c.2716G>A (CNTN4) | ENSP00000380602.1:p.Gly906Arg | |
| ENST00000418658.5:c.2716G>A (CNTN4) | ENSP00000396010.1:p.Gly906Arg | |
| ENST00000427331.5:c.2716G>A (CNTN4) | ENSP00000413642.1:p.Gly906Arg | |
| ENST00000484686.1:n.966G>A (CNTN4) | ||
| NM_001206955.1:c.2716G>A (CNTN4) | NP_001193884.1:p.Gly906Arg | |
| NM_001206956.1:c.1729G>A (CNTN4) | NP_001193885.1:p.Gly577Arg | |
| NM_175607.2:c.2716G>A (CNTN4) | NP_783200.1:p.Gly906Arg | |
| NM_175613.2:c.1732G>A (CNTN4) | NP_783302.1:p.Gly578Arg | |
| NR_046554.1:n.80-596C>T (CNTN4-AS1) | ||
| XM_006713004.2:c.2713G>A (CNTN4) | XP_006713067.1:p.Gly905Arg | |
| XM_011533425.1:c.2716G>A (CNTN4) | XP_011531727.1:p.Gly906Arg | |
| XM_011533426.1:c.2716G>A (CNTN4) | XP_011531728.1:p.Gly906Arg | |
| XM_011533427.1:c.2716G>A (CNTN4) | XP_011531729.1:p.Gly906Arg | |
| XM_011533428.1:c.2716G>A (CNTN4) | XP_011531730.1:p.Gly906Arg | |
| XM_011533429.1:c.2716G>A (CNTN4) | XP_011531731.1:p.Gly906Arg | |
| XM_011533430.1:c.2716G>A (CNTN4) | XP_011531732.1:p.Gly906Arg | |
| XM_011533431.1:c.2683G>A (CNTN4) | XP_011531733.1:p.Gly895Arg | |
| NM_001350095.1:c.2716G>A (CNTN4) | NP_001337024.1:p.Gly906Arg | |
| XM_006713004.4:c.2713G>A (CNTN4) | XP_006713067.1:p.Gly905Arg | |
| XM_011533425.3:c.2716G>A (CNTN4) | XP_011531727.1:p.Gly906Arg | |
| XM_011533427.2:c.2716G>A (CNTN4) | XP_011531729.1:p.Gly906Arg | |
| XM_011533428.2:c.2716G>A (CNTN4) | XP_011531730.1:p.Gly906Arg | |
| XM_011533429.2:c.2716G>A (CNTN4) | XP_011531731.1:p.Gly906Arg | |
| XM_011533430.2:c.2716G>A (CNTN4) | XP_011531732.1:p.Gly906Arg | |
| XM_011533431.2:c.2683G>A (CNTN4) | XP_011531733.1:p.Gly895Arg | |
| XM_017005782.1:c.2716G>A (CNTN4) | XP_016861271.1:p.Gly906Arg | |
| XM_017005783.1:c.2716G>A (CNTN4) | XP_016861272.1:p.Gly906Arg | |
| XM_017005784.2:c.2716G>A (CNTN4) | XP_016861273.1:p.Gly906Arg | |
| XM_017005785.1:c.2713G>A (CNTN4) | XP_016861274.1:p.Gly905Arg | |
| XM_017005786.1:c.2713G>A (CNTN4) | XP_016861275.1:p.Gly905Arg | |
| XM_017005787.1:c.2713G>A (CNTN4) | XP_016861276.1:p.Gly905Arg | |
| NM_175607.3:c.2716G>A (CNTN4) MANE Select | NP_783200.1:p.Gly906Arg | |
| NM_001206955.2:c.2716G>A (CNTN4) | NP_001193884.1:p.Gly906Arg | |
| NM_001206956.2:c.1729G>A (CNTN4) | NP_001193885.1:p.Gly577Arg | |
| NM_001350095.2:c.2716G>A (CNTN4) | NP_001337024.1:p.Gly906Arg | |
| NM_175613.3:c.1732G>A (CNTN4) | NP_783302.1:p.Gly578Arg |