Linked Data
ClinVar Variation Id:
241170
dbSNP Id:
rs748001079
ExAC:
9:139414021 C / A
gnomAD v2:
9-139414021-C-A
gnomAD v3:
9-136519569-C-A
gnomAD v4:
9-136519569-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136519569C>A , CM000671.2:g.136519569C>A | GRCh38 |
| NC_000009.11:g.139414021C>A , CM000671.1:g.139414021C>A | GRCh37 |
| NC_000009.10:g.138533842C>A | NCBI36 |
| NG_007458.1:g.31218G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.743-4G>T (NOTCH1) MANE Select | ENSP00000498587.1:n.743-4G>T | |
| ENST00000679595.1:c.743-4G>T (NOTCH1) | ENSP00000506241.1:n.743-4G>T | |
| ENST00000680133.1:c.743-4G>T (NOTCH1) | ENSP00000505319.1:n.743-4G>T | |
| ENST00000680218.1:c.743-4G>T (NOTCH1) | ENSP00000505339.1:n.743-4G>T | |
| ENST00000680668.1:c.743-4G>T (NOTCH1) | ENSP00000506336.1:n.743-4G>T | |
| ENST00000680924.1:c.743-4G>T (NOTCH1) | ENSP00000506031.1:n.743-4G>T | |
| ENST00000681135.1:c.743-4G>T (NOTCH1) | ENSP00000506636.1:n.743-4G>T | |
| ENST00000681454.1:c.141-4G>T (NOTCH1) | ENSP00000505763.1:n.141-4G>T | |
| ENST00000277541.6:c.743-4G>T (NOTCH1) | ENSP00000277541.6:n.743-4G>T | |
| NM_017617.3:c.743-4G>T (NOTCH1) | NP_060087.3:n.743-4G>T | |
| NR_039820.1:n.58G>T (MIR4673) | ||
| XM_011518717.1:c.44-4G>T (NOTCH1) | XP_011517019.1:n.44-4G>T | |
| NM_017617.5:c.743-4G>T (NOTCH1) MANE Select | NP_060087.3:n.743-4G>T | |
| XM_011518717.2:c.20-4G>T (NOTCH1) | XP_011517019.2:n.20-4G>T |