UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs2304204
gnomAD v2:
19-50169020-T-C
gnomAD v3:
19-49665763-T-C
gnomAD v4:
19-49665763-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49665763T>C , CM000681.2:g.49665763T>C | GRCh38 |
| NC_000019.9:g.50169020T>C , CM000681.1:g.50169020T>C | GRCh37 |
| NC_000019.8:g.54860832T>C | NCBI36 |
| NG_031810.1:g.5113A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377139.8:c.-141A>G (IRF3) MANE Select | ENSP00000366344.3:n.-141A>G | |
| ENST00000246785.7:c.-61T>C (BCL2L12) | ENSP00000246785.2:n.-61T>C | |
| ENST00000377135.8:c.-406A>G (IRF3) | ENSP00000366339.5:n.-406A>G | |
| ENST00000377139.7:c.-141A>G (IRF3) | ENSP00000366344.3:n.-141A>G | |
| ENST00000441864.6:c.-61T>C (BCL2L12) | ENSP00000393803.1:n.-61T>C | |
| ENST00000593337.5:c.-100A>G (IRF3) | ENSP00000473176.1:n.-100A>G | |
| ENST00000593818.5:c.-523A>G (IRF3) | ENSP00000471517.1:n.-523A>G | |
| ENST00000594387.1:n.18A>G (IRF3) | ||
| ENST00000595034.5:c.-355A>G (IRF3) | ENSP00000469067.1:n.-355A>G | |
| ENST00000597198.5:c.-288A>G (IRF3) | ENSP00000469113.1:n.-288A>G | |
| ENST00000597636.5:c.-925A>G (IRF3) | ENSP00000470436.1:n.-925A>G | |
| ENST00000598108.5:c.-241A>G (IRF3) | ENSP00000472223.1:n.-241A>G | |
| ENST00000598808.5:c.-527A>G (IRF3) | ENSP00000472582.1:n.-527A>G | |
| ENST00000600453.1:c.-313A>G (IRF3) | ENSP00000470905.1:n.-313A>G | |
| ENST00000601291.5:c.-141A>G (IRF3) | ENSP00000471896.1:n.-141A>G | |
| ENST00000601373.5:c.-406A>G (IRF3) | ENSP00000471402.1:n.-406A>G | |
| ENST00000601809.5:c.-100A>G (IRF3) | ENSP00000470140.1:n.-100A>G | |
| ENST00000611631.4:c.-61T>C (BCL2L12) | ENSP00000478415.1:n.-61T>C | |
| ENST00000614495.4:c.-61T>C (BCL2L12) | ENSP00000482154.1:n.-61T>C | |
| ENST00000616144.4:c.-61T>C (BCL2L12) | ENSP00000482218.1:n.-61T>C | |
| ENST00000619007.4:c.-61T>C (BCL2L12) | ENSP00000483272.1:n.-61T>C | |
| NM_001040668.1:c.-61T>C (BCL2L12) | NP_001035758.1:n.-61T>C | |
| NM_001197122.1:c.-141A>G (IRF3) | NP_001184051.1:n.-141A>G | |
| NM_001197123.1:c.-304A>G (IRF3) | NP_001184052.1:n.-304A>G | |
| NM_001197124.1:c.-141A>G (IRF3) | NP_001184053.1:n.-141A>G | |
| NM_001197125.1:c.-406A>G (IRF3) | NP_001184054.1:n.-406A>G | |
| NM_001197126.1:c.-234A>G (IRF3) | NP_001184055.1:n.-234A>G | |
| NM_001197127.1:c.-406A>G (IRF3) | NP_001184056.1:n.-406A>G | |
| NM_001197128.1:c.-234A>G (IRF3) | NP_001184057.1:n.-234A>G | |
| NM_001282516.1:c.-61T>C (BCL2L12) | NP_001269445.1:n.-61T>C | |
| NM_001282517.1:c.-61T>C (BCL2L12) | NP_001269446.1:n.-61T>C | |
| NM_001282519.1:c.-61T>C (BCL2L12) | NP_001269448.1:n.-61T>C | |
| NM_001282520.1:c.-61T>C (BCL2L12) | NP_001269449.1:n.-61T>C | |
| NM_001282521.1:c.-61T>C (BCL2L12) | NP_001269450.1:n.-61T>C | |
| NM_001571.5:c.-141A>G (IRF3) | NP_001562.1:n.-141A>G | |
| NM_138639.1:c.-61T>C (BCL2L12) | NP_619580.1:n.-61T>C | |
| NR_045568.1:n.113A>G (IRF3) | ||
| NR_104200.1:n.622T>C (BCL2L12) | ||
| NR_104201.1:n.622T>C (BCL2L12) | ||
| NR_104202.1:n.622T>C (BCL2L12) | ||
| NR_104203.1:n.622T>C (BCL2L12) | ||
| NR_104204.1:n.622T>C (BCL2L12) | ||
| NR_104205.1:n.622T>C (BCL2L12) | ||
| XM_006723197.1:c.-137A>G (IRF3) | XP_006723260.1:n.-137A>G | |
| XM_006723198.1:c.-100A>G (IRF3) | XP_006723261.1:n.-100A>G | |
| XM_006723199.2:c.-925A>G (IRF3) | XP_006723262.1:n.-925A>G | |
| XM_006723201.1:c.-406A>G (IRF3) | XP_006723264.1:n.-406A>G | |
| XM_006723202.1:c.-493A>G (IRF3) | XP_006723265.1:n.-493A>G | |
| XR_935819.1:n.24A>G (IRF3) | ||
| XR_935820.1:n.24A>G (IRF3) | ||
| XM_006723198.2:c.-100A>G (IRF3) | XP_006723261.1:n.-100A>G | |
| XM_017026766.2:c.-137A>G (IRF3) | XP_016882255.1:n.-137A>G | |
| XM_017026767.2:c.-100A>G (IRF3) | XP_016882256.1:n.-100A>G | |
| XM_017027346.2:c.-61T>C (BCL2L12) | XP_016882835.1:n.-61T>C | |
| XM_024451492.1:c.-100A>G (IRF3) | XP_024307260.1:n.-100A>G | |
| XM_024451493.1:c.-100A>G (IRF3) | XP_024307261.1:n.-100A>G | |
| XM_024451494.1:c.-527A>G (IRF3) | XP_024307262.1:n.-527A>G | |
| XM_024451495.1:c.-523A>G (IRF3) | XP_024307263.1:n.-523A>G | |
| XM_024451496.1:c.-527A>G (IRF3) | XP_024307264.1:n.-527A>G | |
| XM_024451497.1:c.-523A>G (IRF3) | XP_024307265.1:n.-523A>G | |
| XM_024451498.1:c.-486A>G (IRF3) | XP_024307266.1:n.-486A>G | |
| XR_001753678.1:n.95A>G (IRF3) | ||
| XR_002958310.1:n.10A>G (IRF3) | ||
| XR_002958311.1:n.10A>G (IRF3) | ||
| NM_001571.6:c.-141A>G (IRF3) MANE Select | NP_001562.1:n.-141A>G | |
| NM_001197122.2:c.-141A>G (IRF3) | NP_001184051.1:n.-141A>G | |
| NM_001197123.2:c.-304A>G (IRF3) | NP_001184052.1:n.-304A>G | |
| NM_001197124.2:c.-141A>G (IRF3) | NP_001184053.1:n.-141A>G | |
| NM_001197126.2:c.-234A>G (IRF3) | NP_001184055.1:n.-234A>G | |
| NM_001197127.2:c.-406A>G (IRF3) | NP_001184056.1:n.-406A>G | |
| NM_001197128.2:c.-234A>G (IRF3) | NP_001184057.1:n.-234A>G | |
| NR_045568.2:n.95A>G (IRF3) | ||
| NM_001197125.2:c.-406A>G (IRF3) | NP_001184054.1:n.-406A>G |