Linked Data
ClinVar Variation Id:
2930697
ClinVar RCV Id:
RCV003790007
dbSNP Id:
rs1716313861
gnomAD v3:
4-5808240-A-C
gnomAD v4:
4-5808240-A-C
MyVariant Identifiers:
chr4:g.5809967A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5808240A>C , CM000666.2:g.5808240A>C | GRCh38 |
| NC_000004.11:g.5809967A>C , CM000666.1:g.5809967A>C | GRCh37 |
| NC_000004.10:g.5860868A>C | NCBI36 |
| NG_008843.1:g.102044A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264956.11:c.2601A>C (EVC) MANE Select | ENSP00000264956.6:p.Pro867= | |
| ENST00000264956.10:c.2601A>C (EVC) | ENSP00000264956.6:p.Pro867= | |
| ENST00000506216.5:n.1647+17254T>G (CRMP1) | ||
| NM_001306090.1:c.2601A>C (EVC) | NP_001293019.1:p.Pro867= | |
| NM_153717.2:c.2601A>C (EVC) | NP_714928.1:p.Pro867= | |
| XM_006713865.2:c.2601A>C (EVC) | XP_006713928.1:p.Pro867= | |
| XM_006713866.2:c.2601A>C (EVC) | XP_006713929.1:p.Pro867= | |
| XR_427473.2:n.2791A>C (EVC) | ||
| XR_427475.2:n.2791A>C (EVC) | ||
| XR_427476.2:n.2791A>C (EVC) | ||
| XR_924920.1:n.2791A>C (EVC) | ||
| XR_924921.1:n.2791A>C (EVC) | ||
| XR_924922.1:n.2791A>C (EVC) | ||
| XR_924923.1:n.2791A>C (EVC) | ||
| XR_924924.1:n.2791A>C (EVC) | ||
| XR_924925.1:n.2791A>C (EVC) | ||
| XR_924926.1:n.2791A>C (EVC) | ||
| XR_924927.1:n.2791A>C (EVC) | ||
| XM_006713865.3:c.2601A>C (EVC) | XP_006713928.1:p.Pro867= | |
| XM_006713866.3:c.2601A>C (EVC) | XP_006713929.1:p.Pro867= | |
| XR_001741164.1:n.2781A>C (EVC) | ||
| XR_001741165.1:n.2781A>C (EVC) | ||
| XR_001741166.1:n.2781A>C (EVC) | ||
| XR_001741167.1:n.2781A>C (EVC) | ||
| XR_001741168.1:n.2781A>C (EVC) | ||
| XR_001741169.2:n.2645A>C (EVC) | ||
| XR_001741170.1:n.2866A>C (EVC) | ||
| XR_001741171.1:n.2086A>C (EVC) | ||
| XR_427473.3:n.2781A>C (EVC) | ||
| XR_427475.3:n.2781A>C (EVC) | ||
| XR_427476.3:n.2781A>C (EVC) | ||
| XR_924920.2:n.2781A>C (EVC) | ||
| XR_924921.2:n.2781A>C (EVC) | ||
| XR_924922.2:n.2781A>C (EVC) | ||
| XR_924924.2:n.2781A>C (EVC) | ||
| XR_924925.2:n.2781A>C (EVC) | ||
| XR_924926.2:n.2781A>C (EVC) | ||
| NM_153717.3:c.2601A>C (EVC) MANE Select | NP_714928.1:p.Pro867= | |
| NM_001306090.2:c.2601A>C (EVC) | NP_001293019.1:p.Pro867= |